G295D (p.Gly295Asp) variant of GCK (Hexokinase-4)
G295D (p.Gly295Asp) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G295D (p.Gly295Asp) variant details
- p.Gly295Asp
- rs2096273902
- ClinGen CA367400135
- ClinVar RCV001288184
- ClinVar RCV002463804
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.91
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- CADD 26.80
- PolyPhen-2 0.01
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)