Q6* (p.Gln6Ter) variant of F11 (Coagulation factor XI)
Q6* (p.Gln6Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- rs1554081288
- ClinGen CA358957294
- ClinVar RCV000666100
- ClinVar RCV003558486
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available