A34V (p.Ala34Val) variant of VKORC1 (Q9BQB6)
A34V (p.Ala34Val) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- TOPMed rs1273794953
- gnomAD rs1273794953
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.64
- CADD 26.60
- PolyPhen-2 0.89
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available