G410R (p.Gly410Arg) variant of GCK (Hexokinase-4)
G410R (p.Gly410Arg) 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 0.92 / 1. The record also includes population frequency data and structural context.
G410R (p.Gly410Arg) variant details
- p.Gly410Arg
- rs2128819136
- ClinGen CA367398313
- ClinVar RCV001977269
- ClinVar RCV004527442
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.99
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available