E265K (p.Glu265Lys) variant of GCK (Hexokinase-4)
E265K (p.Glu265Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Maturity-onset diabetes of the young type 2; Type 2 diabetes mellitus; Hyperinsu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E265K (p.Glu265Lys) variant details
- p.Glu265Lys
- rs104894011
- ClinGen CA367400548
- cosmic curated COSV10520
- ClinVar RCV000516510
- Pathogenic
- Maturity-onset diabetes of the young type 2; Type 2 diabetes mellitus; Hyperinsu
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.73
- AlphaMissense 0.72
- MetaLR 0.87
- MetaSVM 0.65
- CADD 22.60
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Maturity-onset diabetes of the young type 2; Type 2 diabetes mel)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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: Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young… (PMID 18322640)