E31V (p.Glu31Val) variant of PROC (Vitamin K-dependent protein C)
E31V (p.Glu31Val) 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 record also includes structural context.
E31V (p.Glu31Val) variant details
- p.Glu31Val
- rs2468324840
- ClinGen CA348397686
- ClinVar RCV002776555
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available