G114C (p.Gly114Cys) variant of PROC (Vitamin K-dependent protein C)
G114C (p.Gly114Cys) 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 0.60 / 1. The record also includes population frequency data and structural context.
G114C (p.Gly114Cys) variant details
- p.Gly114Cys
- cosmic curated COSV52164
- ESP rs374476971
- ExAC rs374476971
- TOPMed rs374476971
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.72
- CADD 22.70
- PolyPhen-2 0.91
- SIFT 0.06
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available