CYP4F2 rs72552769: Understanding This Rare Genetic Variant
The rs72552769 variant is a rare genetic change located within the CYP4F2 gene, which encodes an enzyme involved in metabolizing vitamin K. While other variants in this gene are well-studied for their influence on warfarin dosing, rs72552769 is a distinct, rare coding variant with limited clinical evidence regarding its functional impact.
What each genotype means
Typical enzyme activity
You carry two reference copies of the CYP4F2 gene at this position, representing the standard functional sequence. Research indicates normal vitamin K1 oxidase activity without the dosage shifts linked to this rare variant. If taking warfarin or other anticoagulants, your dosage should still be determined with your doctor or pharmacist based on comprehensive clinical and genetic factors.
Carried by more than 99.8% of individuals across all major continental ancestral populations.
Altered vitamin K metabolism
You carry one copy of the rare p.Arg433Trp missense variant in CYP4F2. Preliminary and limited evidence suggests this substitution may impair vitamin K1 catabolism, potentially influencing anticoagulant dosage requirements such as warfarin. Because the clinical evidence for this specific rare variant is limited, you should discuss any anticoagulant dosing or medication management directly with your clinician or pharmacist.
Carried by fewer than 1 in 500 individuals globally, remaining exceptionally rare across diverse ancestral groups.
Significantly altered enzyme function
You carry two copies of the rare alternative allele at this CYP4F2 locus. While homozygous individuals are expected to have altered vitamin K1 oxidase activity that may affect warfarin response, direct clinical observations for this genotype are extremely scarce due to its low frequency. It is essential to review your anticoagulant requirements and monitoring plan closely with your physician or pharmacist.
Extremely rare; expected to occur in fewer than 1 in 1,000,000 individuals worldwide.
What is rs72552769?
The rs72552769 variant is a specific genetic alteration, technically identified as c.1297C>T (p.Arg433Trp), situated within the CYP4F2 gene. In genetics, a single nucleotide polymorphism (SNP) like this represents a variation at a single position in the DNA sequence. This particular variant is categorized as a coding variant, meaning it results in an amino acid change in the protein produced by the gene. It is important to distinguish this variant from the more commonly discussed CYP4F2 variant, rs2108622 (often referred to as V433M). While both reside in the same gene, they are separate genetic markers. Because rs72552769 is rare, it does not appear in many large-scale pharmacogenomic studies, and its specific biological consequences remain less characterized compared to more frequent variants in the same region.
The Role of the CYP4F2 Gene
The CYP4F2 gene provides instructions for making an enzyme that belongs to the cytochrome P450 family. This enzyme plays a critical role in the body by oxidizing various compounds, including vitamin K1. Vitamin K is essential for the blood-clotting process. By metabolizing vitamin K, the CYP4F2 enzyme helps regulate the pool of vitamin K available in the liver. Because medications like warfarin work by inhibiting the vitamin K cycle to prevent blood clots, variations in genes that manage vitamin K metabolism—such as CYP4F2—have been extensively researched to see if they influence how much medication a patient might require to achieve a stable therapeutic effect. While the primary clinical focus for warfarin dosing has historically been on other variants, the function of the CYP4F2 enzyme remains a subject of ongoing scientific interest.
Research and Evidence Strength
The evidence supporting a clinical role for rs72552769 is currently limited. In the field of pharmacogenomics, researchers look for statistical associations between specific genotypes and drug response. While the well-known variant rs2108622 has been linked to warfarin dose requirements in various populations, rs72552769 is a distinct, rare variant. Most published research on CYP4F2 focuses on the more common V433M substitution. Because rs72552769 is rare, there is insufficient data to establish a clear, clinically actionable association with drug response or other health outcomes. When evidence is described as 'limited' in genomic databases, it indicates that while the variant has been identified, there is not yet enough robust, peer-reviewed clinical data to determine its significance in a medical setting. Consequently, it is not currently used in standard clinical dosing algorithms.
Population Frequency
The rs72552769 variant is considered rare across diverse human populations. According to current genomic catalogs, the minor allele frequency (MAF) for this variant is less than 0.001. This means that the vast majority of individuals carry the common, or 'wild-type,' allele at this position, while the variant allele is found in only a very small fraction of the population. Because the variant is so infrequent, it is difficult for researchers to gather large enough cohorts to perform high-powered statistical studies on its effects. This rarity is a primary reason why the evidence base for this specific SNP remains limited compared to more common genetic markers that are frequently screened in population-wide studies.
What This Information Means for You
If you have encountered this variant in a genetic report, it is important to understand that it is not a diagnostic tool. Genetic variants are simply pieces of information about your biological blueprint, and the presence of a rare variant does not necessarily imply a health condition or a specific drug response. Because the clinical evidence for rs72552769 is limited, it is not currently used to guide medical decisions or medication dosing. You should never use information about a single genetic variant to make changes to your prescribed medications or health regimen. If you have questions about your genetic results or how they might relate to your health, the most appropriate step is to discuss them with your physician or a qualified pharmacist. They can provide context based on your full medical history and current clinical guidelines.
How common is this variant?
The rs72552769 variant is rare, with a minor allele frequency of less than 0.001 across diverse global populations.
Frequently asked questions
Is rs72552769 the same as the common warfarin variant?
No, rs72552769 is a distinct, rare variant. The primary variant associated with warfarin dosing in the CYP4F2 gene is rs2108622.
Should I change my medication based on this result?
No. You should never change your medication based on genetic information without consulting your doctor. This variant does not have established clinical guidelines for dosing.
Why is there limited information about this variant?
Because rs72552769 is very rare, there is not enough scientific data to establish a clear clinical impact. Most research focuses on more common variants that affect a larger portion of the population.
Where can I find more information about my specific genetic results?
You should consult with a healthcare provider, such as a doctor or a genetic counselor. They can interpret your results in the context of your overall health and medical history.
Sources & further reading
Educational information only, last refreshed 10/28/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Functional CYP4F2 variant influencing vitamin K metabolism and clinical warfarin dose requirements.
This variant (V433M, *3 allele) decreases vitamin K metabolism, typically requiring an increased maintenance dose of warfarin to achieve target anticoagulation.
The CYP4F2 V33M variant is associated with altered vitamin K metabolism and influences warfarin maintenance dose.