V76L (p.Val76Leu) variant of PROC (Vitamin K-dependent protein C)
V76L (p.Val76Leu) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THPH3. The record also includes structural context.
V76L (p.Val76Leu) variant details
- p.Val76Leu
- ExAC rs121918149
- TOPMed rs121918149
- gnomAD rs121918149
- Pathogenic
- in THPH3
- Missense
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Structural context available