A5V (p.Ala5Val) variant of F7 (Coagulation factor VII)
A5V (p.Ala5Val) in F7 (Coagulation factor VII) 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, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs755010915
- gnomAD 13-113105855-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.11
- MetaLR 0.58
- MetaSVM -0.48
- CADD 5.27
- PolyPhen-2 0.01
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available