C136* (p.Cys136Ter) variant of F11 (Coagulation factor XI)
C136* (p.Cys136Ter) 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 0.88 / 1. The record also includes population frequency data and structural context.
C136* (p.Cys136Ter) variant details
- p.Cys136Ter
- rs143648758
- ClinGen CA199095
- ClinVar RCV000169275
- ClinVar RCV000851782
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available