R51C (p.Arg51Cys) variant of PROC (Vitamin K-dependent protein C)
R51C (p.Arg51Cys) 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 not provided; Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- rs764546127
- ClinGen CA1859249
- NCI-TCGA Cosmic COSV5216
- cosmic curated COSV52169
- Pathogenic
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.68
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Thrombophilia due to protein C deficiency, autosom)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available