V54A (p.Val54Ala) variant of VKORC1 (Q9BQB6)
V54A (p.Val54Ala) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V54A (p.Val54Ala) variant details
- p.Val54Ala
- rs745410819
- gnomAD 16-31093480-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.28
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available