A3V (p.Ala3Val) variant of F12 (Coagulation factor XII)
A3V (p.Ala3Val) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD rs1159698344
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.16
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available