W73C (p.Trp73Cys) variant of F11 (Coagulation factor XI)
W73C (p.Trp73Cys) in F11 (Coagulation factor XI) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
W73C (p.Trp73Cys) variant details
- p.Trp73Cys
- ExAC rs762013077
- TOPMed rs762013077
- gnomAD rs762013077
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.60
- MetaLR 0.79
- MetaSVM 0.66
- CADD 28.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available