E70Q (p.Glu70Gln) variant of GCK (Hexokinase-4)
E70Q (p.Glu70Gln) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maturity-onset diabetes of the young; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
E70Q (p.Glu70Gln) variant details
- p.Glu70Gln
- rs2128823091
- ClinGen CA367403201
- ClinVar RCV003330064
- ClinVar RCV005061278
- Conflicting interpretations
- Maturity-onset diabetes of the young; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; not specified)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)