Q23* (p.Gln23Ter) variant of F11 (Coagulation factor XI)
Q23* (p.Gln23Ter) 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 0.61 / 1. The record also includes population frequency data and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs768409400
- ClinGen CA199124
- ClinVar RCV000169536
- ClinVar RCV000727045
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 24.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available