A20D (p.Ala20Asp) variant of F7 (Coagulation factor VII)
A20D (p.Ala20Asp) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 13-113105900-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.24
- MetaLR 0.68
- MetaSVM -0.25
- CADD 16.30
- PolyPhen-2 0.47
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available