C18Y (p.Cys18Tyr) variant of F7 (Coagulation factor VII)
C18Y (p.Cys18Tyr) 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.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- rs370843454
- gnomAD 13-113105894-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.21
- MetaLR 0.50
- MetaSVM -0.57
- CADD 16.90
- PolyPhen-2 0.13
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available