G239R (p.Gly239Arg) variant of PROC (Vitamin K-dependent protein C)
G239R (p.Gly239Arg) 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; Thrombophilia due to protein C deficiency, autosomal dom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G239R (p.Gly239Arg) variant details
- p.Gly239Arg
- rs777486993
- ClinGen CA1859430
- cosmic curated COSV52165
- ClinVar RCV000852197
- Likely pathogenic
- Deep venous thrombosis; Thrombophilia due to protein C deficiency, autosomal dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deep venous thrombosis; Thrombophilia due to protein C deficienc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available