R32C (p.Arg32Cys) variant of PROC (Vitamin K-dependent protein C)
R32C (p.Arg32Cys) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs2468324848
- ClinGen CA348397690
- ClinVar RCV002776556
- UniProt VAR 006635
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.60
- CADD 23.20
- PolyPhen-2 0.52
- SIFT 0.03
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in… (PMID 8829639)
- Cited in: Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel… (PMID 1301959)