C136Y (p.Cys136Tyr) variant of F11 (Coagulation factor XI)
C136Y (p.Cys136Tyr) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C136Y (p.Cys136Tyr) variant details
- p.Cys136Tyr
- gnomAD rs1222942987
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 1.00
- MetaSVM 0.93
- CADD 24.50
- Population evidence available
- Structural context available