A30V (p.Ala30Val) variant of F2 (Prothrombin)
A30V (p.Ala30Val) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 11-46719711-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.25
- CADD 17.70
- PolyPhen-2 0.11
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available