SLC45A2 rs16891982: What Your Genotype Means
The rs16891982 variant is a well-studied genetic marker located within the SLC45A2 gene. It is strongly associated with normal variations in human skin, hair, and eye pigmentation, particularly among individuals of European ancestry.
What each genotype means
Associated with darker pigmentation
This genotype is associated with darker skin and hair pigmentation in many global populations. In individuals of European ancestry, this genotype is significantly less common and is statistically associated with a higher likelihood of having black hair compared to those with the G allele.
This genotype is the ancestral state and is common in many non-European populations, but it is rare in populations of Northern European descent.
Intermediate pigmentation profile
This genotype represents a heterozygous state for the SLC45A2 variant. Individuals with this profile may exhibit intermediate pigmentation traits, as the presence of one G allele contributes to the lighter skin pigmentation phenotype commonly observed in European populations.
This genotype is found at varying frequencies globally, appearing frequently in populations with mixed ancestry.
Associated with lighter pigmentation
This genotype, often referred to as the p.Phe374Leu variant (where G encodes the derived Leu allele), is strongly associated with lighter skin pigmentation in European populations. Research indicates this genotype is also associated with a reduced risk of malignant melanoma in some European cohorts, likely due to its influence on melanogenesis.
This genotype is very common in populations of Northern European ancestry, where the G allele has reached high frequency.
Understanding the rs16891982 Variant
The rs16891982 variant is a single nucleotide polymorphism (SNP) located in the SLC45A2 gene, which is found on chromosome 5. In scientific literature, this variant is frequently referred to as the L374F polymorphism, reflecting a change in the protein sequence where the amino acid leucine (L) is replaced by phenylalanine (F) at position 374. This specific change is considered a functional variant because it alters the structure of the protein produced by the gene. Researchers have identified this SNP as a key genetic factor contributing to the diversity of human pigmentation. Because it is a common variant, it has been extensively studied in the context of how human populations have adapted to different environments over time, particularly regarding the regulation of melanin production in the skin, hair, and eyes.
The Role of the SLC45A2 Gene
The SLC45A2 gene, also known as MATP or AIM1, provides instructions for making a protein that is essential for the function of melanosomes. Melanosomes are specialized structures within cells that produce and store melanin, the pigment responsible for the color of our skin, hair, and eyes. The SLC45A2 protein acts as a transporter, helping to regulate the chemical environment inside these melanosomes, which is necessary for the synthesis of melanin. When this gene functions normally, it supports the production of pigment. Mutations that severely disrupt the function of this protein can lead to conditions like oculocutaneous albinism type 4, which is characterized by significantly reduced pigmentation. In the general population, however, common variants like rs16891982 act as 'tuning knobs' that influence the intensity and type of pigmentation, contributing to the wide spectrum of human physical appearance observed globally.
Research and Statistical Associations
The evidence linking rs16891982 to pigmentation is considered strong and has been replicated across numerous studies. Research published in the GWAS Catalog and various peer-reviewed journals consistently shows that this variant is associated with skin color, hair color, and eye color. Beyond pigmentation, some studies have explored the relationship between this variant and skin cancer risk, such as melanoma. For instance, some meta-analyses have suggested that certain alleles of this variant may have a protective association against melanoma in specific European populations. However, it is important to note that these associations are statistical in nature and do not imply a direct cause-and-effect relationship for any individual. The strength of the association can vary depending on the ancestral background of the population being studied, and researchers continue to investigate how this variant interacts with other genetic and environmental factors to influence health outcomes.
Population Frequency and Distribution
The frequency of the alleles at the rs16891982 site varies significantly across different global populations. The phenylalanine (F) allele is highly prevalent in European populations, where it is often considered a fixed or near-fixed trait. In contrast, the ancestral leucine (L) allele is more common in African populations. Because of this distinct distribution, the variant is often used by researchers to study human migration and natural selection. In admixed populations—such as those in Latin America or South Asia—the frequency of these alleles can vary widely, reflecting the diverse ancestral contributions of those groups. Because the variant is so common in certain regions, it is not considered a rare mutation but rather a normal, widespread genetic polymorphism that contributes to the natural diversity of human traits.
Interpreting Your Genetic Information
If you have received information about your rs16891982 genotype, it is important to understand that this data describes a trait-associated variant, not a diagnostic medical result. This information provides insight into the genetic factors that contribute to your physical appearance, such as skin or eye color, but it does not predict your health or disease risk with certainty. Genetic associations are complex and influenced by many other genes and environmental factors, such as sun exposure. You cannot use this information to diagnose a condition or determine a medical treatment plan. If you have concerns about skin health, such as changes in moles or sun sensitivity, the most appropriate step is to consult with a dermatologist or a healthcare professional. They can provide personalized advice based on your clinical history and physical examination, which are far more informative than a single genetic variant.
How common is this variant?
The rs16891982 variant shows significant frequency differences across ancestries, with the phenylalanine allele being nearly fixed in European populations and the ancestral leucine allele being predominant in African populations.
Frequently asked questions
Is rs16891982 a cause of albinism?
While the SLC45A2 gene is associated with oculocutaneous albinism type 4, those conditions are typically caused by rare, severe mutations that disrupt protein function. The rs16891982 variant is a common polymorphism associated with normal variation in pigmentation, not the clinical condition of albinism.
Does my rs16891982 genotype predict my risk of skin cancer?
Some studies have found statistical associations between this variant and melanoma risk in specific populations. However, these are population-level observations and do not serve as a personal medical prediction; you should discuss your skin cancer risk factors with a dermatologist.
Can I change my pigmentation by knowing my genotype?
No, your genotype is inherited and cannot be changed. This information simply provides context regarding the genetic factors that influence your natural skin, hair, and eye color.
Why do different sources say this variant is 'protective' or 'associated' with cancer?
Genetic research often reports statistical associations, which can vary between studies due to differences in population ancestry and environmental factors. These findings are meant for scientific research and do not constitute medical advice or a definitive risk assessment for an individual.
Sources & further reading
Educational information only, last refreshed 10/5/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This synonymous variant is in high linkage disequilibrium with functional alleles that influence human skin, hair, and eye pigmentation.
This missense variant (p.Phe374Leu) is a major determinant of human skin, hair, and eye pigmentation, showing strong evidence of selection in European populations.
Synonymous marker in the SLC45A2 locus associated with skin reflectance, tanning response, and freckling phenotypes.
This missense variant (p.Phe374Leu) is a key ancestry-informative marker and a classic signature of recent positive selection, strongly associated with skin pigmentation and melanoma risk.
This variant (p.Phe374Leu) is strongly associated with lighter skin, hair, and eye pigmentation, as well as an increased sensitivity to UV-induced skin damage.
The p.Phe374Leu variant in SLC45A2 is a major determinant of human pigmentation variation, influencing skin, hair, and eye color across global populations.