V4L (p.Val4Leu) variant of F2 (Prothrombin)
V4L (p.Val4Leu) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- gnomAD 11-46719245-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.23
- CADD 14.90
- PolyPhen-2 0.04
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available