V94A (p.Val94Ala) variant of F12 (Coagulation factor XII)
V94A (p.Val94Ala) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V94A (p.Val94Ala) variant details
- p.Val94Ala
- ExAC rs772073686
- gnomAD rs772073686
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.29
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available