R220W (p.Arg220Trp) variant of PROC (Vitamin K-dependent protein C)
R220W (p.Arg220Trp) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R220W (p.Arg220Trp) variant details
- p.Arg220Trp
- rs121918152
- ClinGen CA114410
- ClinVar RCV000000703
- ClinVar RCV004754231
- Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.57
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.28
- ClinVar: Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. (PMID 1511989)
- Cited in: Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis… (PMID 22545135)