G410D (p.Gly410Asp) variant of GCK (Hexokinase-4)
G410D (p.Gly410Asp) 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 0.91 / 1. The record also includes population frequency data and structural context.
G410D (p.Gly410Asp) variant details
- p.Gly410Asp
- rs1554334546
- ClinGen CA367398309
- ClinVar RCV000516548
- ClinVar RCV004527381
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.99
- CADD 29.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available