E62A (p.Glu62Ala) variant of PROC (Vitamin K-dependent protein C)
E62A (p.Glu62Ala) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; PROC-related disorder. The record also includes published literature and structural context.
E62A (p.Glu62Ala) variant details
- p.Glu62Ala
- rs121918148
- ClinGen CA114402
- ClinVar RCV000000699
- ClinVar RCV003398403
- Pathogenic/Likely pathogenic
- not provided; PROC-related disorder
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; PROC-related disorder)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Structural context available
- Cited in: Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations. (PMID 1347706)
- Cited in: Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel… (PMID 1301959)