G294D (p.Gly294Asp) variant of GCK (Hexokinase-4)
G294D (p.Gly294Asp) 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 0.82 / 1. The record also includes population frequency data and structural context.
G294D (p.Gly294Asp) variant details
- p.Gly294Asp
- gnomAD rs1198819911
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.79
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.60
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available