R158W (p.Arg158Trp) variant of PROC (Vitamin K-dependent protein C)
R158W (p.Arg158Trp) 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 Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R158W (p.Arg158Trp) variant details
- p.Arg158Trp
- rs2104954798
- ClinGen CA348399996
- ClinVar RCV002221179
- Ensembl rs2104954798
- Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.72
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available