A251E (p.Ala251Glu) variant of PROC (Vitamin K-dependent protein C)
A251E (p.Ala251Glu) 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 Reduced protein C activity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
A251E (p.Ala251Glu) variant details
- p.Ala251Glu
- rs568121876
- ClinGen CA348402346
- ClinVar RCV002245354
- 1000Genomes rs568121876
- Likely pathogenic
- Reduced protein C activity
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- MutPred 0.95
- ClinVar: Likely pathogenic (Reduced protein C activity)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available