R328H (p.Arg328His) variant of PROC (Vitamin K-dependent protein C)
R328H (p.Arg328His) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R328H (p.Arg328His) variant details
- p.Arg328His
- rs1688677671
- ClinGen CA348405226
- ClinVar RCV001801320
- UniProt VAR 006690
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.61
- CADD 22.70
- PolyPhen-2 0.33
- SIFT 0.05
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH4)
- UniProt: Pathogenic (in THPH4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or… (PMID 7878626)
- Cited in: A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. (PMID 1511988)