G30C (p.Gly30Cys) variant of F7 (Coagulation factor VII)
G30C (p.Gly30Cys) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- rs1330001431
- gnomAD 13-113110716-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.34
- MetaLR 0.64
- MetaSVM -0.07
- CADD 14.90
- PolyPhen-2 0.88
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available