Y69C (p.Tyr69Cys) variant of F5 (Coagulation factor V)
Y69C (p.Tyr69Cys) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y69C (p.Tyr69Cys) variant details
- p.Tyr69Cys
- Ensembl rs2101847043
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.84
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available