Y52* (p.Tyr52Ter) variant of F11 (Coagulation factor XI)
Y52* (p.Tyr52Ter) 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.
Y52* (p.Tyr52Ter) variant details
- p.Tyr52Ter
- rs1554081886
- ClinGen CA658822912
- ClinVar RCV000665461
- ClinVar RCV003480752
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available