MC1R rs11547464: Understanding the Asp294His Variant
The rs11547464 variant is a specific genetic change located within the MC1R gene. It is primarily associated with variations in human pigmentation, including red hair color and increased sun-sensitivity of the skin.
What each genotype means
Typical MC1R function
This genotype represents the consensus or wild-type sequence for this position in the MC1R gene. Individuals with this genotype typically possess standard receptor function regarding pigmentation and tanning response.
This is the most common genotype in most global populations.
Red hair color carrier
Carrying one copy of the A allele is associated with the red hair color (RHC) phenotype, which includes fair skin and a tendency to burn. Research indicates that this variant, also known as Asp294His, can alter receptor signaling and is linked to increased sun sensitivity.
This genotype is found primarily in individuals of European ancestry, with a minor allele frequency of approximately 0.02.
Increased red hair association
Individuals with two copies of the A allele are more strongly associated with the red hair color phenotype, fair skin, and an elevated tendency to burn. This variant is known to influence the melanocortin-1 receptor's ability to produce eumelanin, which is the pigment responsible for darker skin and hair.
This genotype is relatively rare and is observed most frequently in populations of European descent.
What is the rs11547464 Variant?
The rs11547464 variant is a single nucleotide polymorphism (SNP) located on chromosome 16 within the MC1R gene. In genetic terms, this variant represents a coding substitution where the amino acid aspartate is replaced by histidine at position 294 of the protein, often referred to as p.Asp294His. This specific change is one of many variations found within the MC1R gene, which is known for being highly polymorphic in human populations. Because this variant alters the protein sequence, it can influence how the receptor functions, which in turn affects the biological pathways responsible for determining skin and hair color. Researchers track this SNP to better understand the genetic architecture of human pigmentation and how specific molecular changes contribute to observable physical traits.
The Role of the MC1R Gene
The MC1R gene encodes the melanocortin-1 receptor, a protein found on the surface of melanocytes, which are the cells responsible for producing melanin. Melanin is the pigment that gives color to our skin, hair, and eyes. When the MC1R receptor is activated, it triggers a signaling cascade that promotes the production of eumelanin, the darker pigment that provides protection against ultraviolet (UV) radiation. Variants in this gene, such as rs11547464, can lead to a partial loss of function in this receptor. When the receptor is less effective, the body may produce more pheomelanin—a lighter, reddish pigment—instead of protective eumelanin. This shift is the primary reason why certain MC1R variants are strongly linked to red hair, fair skin, and a reduced ability to tan, as well as an increased propensity to burn when exposed to sunlight.
Research and Evidence Strength
Scientific research has established a clear association between various MC1R variants and the 'red hair color' (RHC) phenotype. The evidence for rs11547464 specifically identifies it as a contributor to these pigmentation traits. However, it is important to note that the strength of this association can vary depending on the population being studied. While some variants are considered high-penetrance, meaning they have a strong, predictable effect on the phenotype, others have a more modest impact. Current literature classifies rs11547464 as a variant of interest in the study of pigmentation, but it is often analyzed alongside other genetic markers to get a complete picture of an individual's trait profile. Because pigmentation is a complex, polygenic trait influenced by many genes and environmental factors, the presence of this variant alone does not guarantee a specific physical outcome.
Population Frequency
The frequency of the rs11547464 variant varies significantly across different global populations. In European populations, the minor allele frequency (MAF) is approximately 0.02, meaning it is relatively uncommon but present. Genetic studies have observed that the distribution of MC1R variants is not uniform, with some populations showing higher diversity in these markers than others. Research into Hispanic and other diverse cohorts has highlighted that while certain variants are prevalent in specific ancestral groups, others may be rare or absent. Understanding these frequency differences is crucial for researchers who study the evolution of human pigmentation and the varying risks for skin-related conditions across different ethnic backgrounds.
What This Information Means for You
Learning about your genotype for rs11547464 provides insight into the genetic factors that contribute to your physical traits, such as hair color and skin sensitivity. It is important to remember that genetic associations are statistical in nature and do not serve as a medical diagnosis. While this variant is linked to sun-sensitivity, skin health is influenced by a wide range of factors, including other genes and your personal history of sun exposure. If you are concerned about skin health, sun protection, or your risk for skin-related conditions, the most appropriate step is to consult with a dermatologist or a qualified healthcare provider. They can offer personalized advice based on your clinical history and physical examination, which are far more informative than genetic data alone.
How common is this variant?
The rs11547464 variant has a minor allele frequency of approximately 0.02 in European populations, though its prevalence varies across different global ancestries.
Frequently asked questions
Does having the rs11547464 variant mean I will have red hair?
Not necessarily. While this variant is associated with red hair, pigmentation is a complex trait influenced by many different genes. Having this variant increases the likelihood of certain traits, but it does not guarantee them.
Is rs11547464 a cause of skin cancer?
The variant is associated with sun-sensitivity and a reduced ability to tan, which are known risk factors for skin damage. However, it is not a direct cause of cancer; rather, it is a genetic marker that may influence your skin's response to UV light.
Should I get tested for this variant?
Genetic testing for pigmentation traits is generally not medically necessary. If you have concerns about your skin health or sun sensitivity, it is best to speak with a dermatologist who can provide a clinical assessment.
Can I change my skin sensitivity if I have this variant?
You cannot change your genetics, but you can manage your skin health. Regardless of your genotype, dermatologists recommend consistent sun protection, such as using sunscreen and wearing protective clothing, to minimize UV damage.
Sources & further reading
Educational information only, last refreshed 9/28/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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The p.Arg163Gln variant in MC1R is associated with red hair, fair skin, and increased melanoma risk.
This missense variant (p.Arg142His) is a well-established, highly penetrant allele associated with red hair color and fair skin pigmentation.
This missense variant (p.Arg160Trp) is a primary genetic determinant of red hair color, pale skin, and increased freckling in European populations.
The Val60Leu missense variant in MC1R is a well-documented factor contributing to the red hair, fair skin, and freckling phenotype.
A rare variant associated with lighter skin pigmentation in specific populations.
Common missense variant (p.Arg151Cys) strongly associated with fair skin pigmentation, red hair, freckles, and increased UV sensitivity.