A5D (p.Ala5Asp) variant of F7 (Coagulation factor VII)
A5D (p.Ala5Asp) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- rs755010915
- gnomAD 13-113105855-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.15
- MetaLR 0.64
- MetaSVM -0.35
- CADD 10.20
- PolyPhen-2 0.16
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available