R42C (p.Arg42Cys) variant of PROC (Vitamin K-dependent protein C)
R42C (p.Arg42Cys) 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 Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- rs774572099
- ClinGen CA1859245
- ClinVar RCV001200134
- ClinVar RCV001379312
- Pathogenic/Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.85
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant; T)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C… (PMID 8324221)