W73* (p.Trp73Ter) variant of F11 (Coagulation factor XI)
W73* (p.Trp73Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
W73* (p.Trp73Ter) variant details
- p.Trp73Ter
- rs762013077
- ClinGen CA3163603
- ClinVar RCV000409418
- ClinVar RCV001865257
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.60
- MetaLR 0.79
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.19
- MutPred 0.65
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available