R328C (p.Arg328Cys) variant of PROC (Vitamin K-dependent protein C)
R328C (p.Arg328Cys) 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 dominant; Reduced protein C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R328C (p.Arg328Cys) variant details
- p.Arg328Cys
- rs201907715
- ClinGen CA55350874
- ClinVar RCV000851922
- ClinVar RCV001869073
- Pathogenic/Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant; Reduced protein C
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.69
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant; R)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Six different point mutations in seven Danish families with symptomatic protein C deficiency. (PMID 7792728)
- Cited in: Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency. (PMID 8499565)