R40H (p.Arg40His) variant of PROC (Vitamin K-dependent protein C)
R40H (p.Arg40His) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- ExAC rs770650361
- TOPMed rs770650361
- gnomAD rs770650361
- Likely pathogenic
- Deep venous thrombosis; Thromboembolism; Thrombophilia due to protein C deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.32
- CADD 4.24
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Likely pathogenic (Deep venous thrombosis; Thromboembolism; Thrombophilia due to pr)
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available