C56Y (p.Cys56Tyr) variant of F11 (Coagulation factor XI)
C56Y (p.Cys56Tyr) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
C56Y (p.Cys56Tyr) variant details
- p.Cys56Tyr
- gnomAD rs1268515791
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.96
- CADD 24.30
- Population evidence available
- Structural context available