R392S (p.Arg392Ser) variant of GCK (Hexokinase-4)
R392S (p.Arg392Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R392S (p.Arg392Ser) variant details
- p.Arg392Ser
- rs1167124132
- ClinGen CA367398628
- ClinVar RCV003331710
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.78
- AlphaMissense 0.70
- MetaLR 0.94
- MetaSVM 1.08
- CADD 26.20
- PolyPhen-2 0.93
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Population evidence available
- Structural context available