G343S (p.Gly343Ser) variant of PROC (Vitamin K-dependent protein C)
G343S (p.Gly343Ser) 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 recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G343S (p.Gly343Ser) variant details
- p.Gly343Ser
- rs121918147
- ClinGen CA114399
- ClinVar RCV000000698
- Ensembl rs121918147
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- MutPred 0.97
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal recessive)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Structural context available
- Cited in: Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis. (PMID 1347608)