E339D (p.Glu339Asp) variant of GCK (Hexokinase-4)
E339D (p.Glu339Asp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
E339D (p.Glu339Asp) variant details
- p.Glu339Asp
- rs954171452
- ClinGen CA157914367
- ClinVar RCV002249054
- ClinVar RCV003883192
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.92
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 0.92
- SIFT 0.03
- EVE 0.27
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)