Q226H (p.Gln226His) variant of PROC (Vitamin K-dependent protein C)
Q226H (p.Gln226His) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.97 / 1. The record also includes published literature and structural context.
Q226H (p.Gln226His) variant details
- p.Gln226His
- rs121918155
- ClinGen CA114416
- ClinVar RCV000000709
- UniProt VAR 006670
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- MutPred 0.97
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Structural context available
- Cited in: Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by… (PMID 8400292)