Y56* (p.Tyr56Ter) variant of VWF (von Willebrand factor)
Y56* (p.Tyr56Ter) in VWF (von Willebrand factor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Y56* (p.Tyr56Ter) variant details
- p.Tyr56Ter
- rs1945427535
- ClinGen CA383507956
- ClinVar RCV003134765
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available