R57W (p.Arg57Trp) variant of PROC (Vitamin K-dependent protein C)
R57W (p.Arg57Trp) 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; Thrombophilia du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R57W (p.Arg57Trp) variant details
- p.Arg57Trp
- rs757583846
- ClinGen CA334388
- ClinVar RCV000168170
- ClinVar RCV000490205
- Pathogenic/Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Six different point mutations in seven Danish families with symptomatic protein C deficiency. (PMID 7792728)
- Cited in: A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent… (PMID 8499568)