C56* (p.Cys56Ter) variant of F11 (Coagulation factor XI)
C56* (p.Cys56Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FA11D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C56* (p.Cys56Ter) variant details
- p.Cys56Ter
- rs1739974269
- ClinGen CA358958032
- ClinVar RCV003555166
- Ensembl rs1739974269
- Pathogenic
- in FA11D
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 24.70
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available