C18F (p.Cys18Phe) variant of F7 (Coagulation factor VII)
C18F (p.Cys18Phe) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C18F (p.Cys18Phe) variant details
- p.Cys18Phe
- gnomAD 13-113105894-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.17
- MetaLR 0.50
- MetaSVM -0.57
- CADD 16.40
- PolyPhen-2 0.09
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available