E67* (p.Glu67Ter) variant of PROC (Vitamin K-dependent protein C)
E67* (p.Glu67Ter) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
E67* (p.Glu67Ter) variant details
- p.Glu67Ter
- TOPMed rs1448630830
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available