E40K (p.Glu40Lys) variant of GCK (Hexokinase-4)
E40K (p.Glu40Lys) 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 0.83 / 1. The record also includes published literature and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs794727236
- ClinGen CA201503
- ClinVar RCV000175536
- ClinVar RCV003388832
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.36
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Structural context available
- Cited in: Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated… (PMID 25015100)
- Cited in: Neonatal diabetes mellitus due to complete glucokinase deficiency. (PMID 11372010)