V4A (p.Val4Ala) variant of F2 (Prothrombin)
V4A (p.Val4Ala) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- gnomAD 11-46719246-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available