R42H (p.Arg42His) variant of PROC (Vitamin K-dependent protein C)
R42H (p.Arg42His) 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 Deep venous thrombosis; Thromboembolism; Thrombophilia due to protein C deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R42H (p.Arg42His) variant details
- p.Arg42His
- rs369504169
- ClinGen CA211707
- ClinVar RCV000148739
- ClinVar RCV000851677
- Likely pathogenic
- Deep venous thrombosis; Thromboembolism; Thrombophilia due to protein C deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deep venous thrombosis; Thromboembolism; Thrombophilia due to pr)
- EBI: Likely pathogenic (in Malakoff)
- UniProt: Likely pathogenic (in Malakoff)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C… (PMID 8324221)