G128R (p.Gly128Arg) variant of PROC (Vitamin K-dependent protein C)
G128R (p.Gly128Arg) 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.
G128R (p.Gly128Arg) variant details
- p.Gly128Arg
- rs2468337332
- ClinGen CA348399167
- ClinVar RCV003484571
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available