R271W (p.Arg271Trp) variant of PROC (Vitamin K-dependent protein C)
R271W (p.Arg271Trp) 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 0.51 / 1. The record also includes population frequency data and structural context.
R271W (p.Arg271Trp) variant details
- p.Arg271Trp
- rs767112991
- ClinGen CA1859464
- cosmic curated COSV52165
- ClinVar RCV000645701
- Pathogenic/Likely pathogenic
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant; Thr
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.65
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Pathogenic/Likely 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 South Asian population (allele frequency 0.00021)
- Structural context available