V367M (p.Val367Met) variant of PROC (Vitamin K-dependent protein C)
V367M (p.Val367Met) 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 not provided; Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V367M (p.Val367Met) variant details
- p.Val367Met
- rs140582220
- ClinGen CA1859522
- cosmic curated COSV52166
- ClinVar RCV001378884
- Likely pathogenic
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.37
- CADD 7.37
- PolyPhen-2 0.91
- SIFT 0.21
- ClinVar: Likely pathogenic (not provided; Thrombophilia due to protein C deficiency, autosom)
- EBI: Likely pathogenic (in THPH4)
- UniProt: Likely pathogenic (in THPH4)
- Population evidence available
- Structural context available