E70K (p.Glu70Lys) variant of GCK (Hexokinase-4)
E70K (p.Glu70Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
E70K (p.Glu70Lys) variant details
- p.Glu70Lys
- rs2128823091
- ClinGen CA367403203
- ClinVar RCV002227431
- ClinVar RCV002473357
- Pathogenic/Likely pathogenic
- Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn
- 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: Pathogenic/Likely pathogenic (Maturity-onset diabetes of the young type 2; Maturity-onset diab)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)
- Cited in: Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations… (PMID 8325892)