R272C (p.Arg272Cys) variant of PROC (Vitamin K-dependent protein C)
R272C (p.Arg272Cys) 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; Thrombophilia due to protein C deficiency, autosomal dominant; Thr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R272C (p.Arg272Cys) variant details
- p.Arg272Cys
- rs121918154
- ClinGen CA114414
- cosmic curated COSV52165
- ClinVar RCV000000706
- Pathogenic/Likely pathogenic
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant; Thr
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.62
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Thrombophilia due to protein C deficiency, autosom)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I… (PMID 1868249)
- Cited in: Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. (PMID 8093743)