Y5C (p.Tyr5Cys) variant of F11 (Coagulation factor XI)
Y5C (p.Tyr5Cys) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Y5C (p.Tyr5Cys) variant details
- p.Tyr5Cys
- ExAC rs749690750
- gnomAD rs749690750
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.68
- MetaSVM -0.19
- CADD 7.14
- Population evidence available
- Structural context available