C10Y (p.Cys10Tyr) variant of F7 (Coagulation factor VII)
C10Y (p.Cys10Tyr) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- rs777789240
- gnomAD 13-113105870-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.32
- MetaLR 0.72
- MetaSVM 0.01
- CADD 22.80
- PolyPhen-2 0.78
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available