R139* (p.Arg139Ter) variant of F11 (Coagulation factor XI)
R139* (p.Arg139Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
R139* (p.Arg139Ter) variant details
- p.Arg139Ter
- rs2477246721
- ClinGen CA358958597
- ClinVar RCV002309575
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available