G17C (p.Gly17Cys) variant of F7 (Coagulation factor VII)
G17C (p.Gly17Cys) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- gnomAD 13-113105890-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.27
- MetaLR 0.63
- MetaSVM -0.53
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available