Q134* (p.Gln134Ter) variant of F11 (Coagulation factor XI)
Q134* (p.Gln134Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
Q134* (p.Gln134Ter) variant details
- p.Gln134Ter
- rs756908183
- ClinGen CA199092
- ClinVar RCV000169273
- ClinVar RCV000726287
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available