R211W (p.Arg211Trp) variant of PROC (Vitamin K-dependent protein C)
R211W (p.Arg211Trp) 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 recessive; Reduced protein. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R211W (p.Arg211Trp) variant details
- p.Arg211Trp
- rs121918143
- ClinGen CA114389
- ClinVar RCV000000693
- ClinVar RCV000000694
- Pathogenic/Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal recessive; Reduced protein
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.58
- CADD 15.10
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Molecular genetic analysis of severe protein C deficiency. (PMID 10942114)
- Cited in: A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. (PMID 1511988)