G410C (p.Gly410Cys) variant of GCK (Hexokinase-4)
G410C (p.Gly410Cys) 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 0.93 / 1. The record also includes population frequency data and structural context.
G410C (p.Gly410Cys) variant details
- p.Gly410Cys
- rs2128819136
- ClinGen CA367398311
- ClinVar RCV004527572
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- REVEL 0.99
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available