E300K (p.Glu300Lys) variant of GCK (Hexokinase-4)
E300K (p.Glu300Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
E300K (p.Glu300Lys) variant details
- p.Glu300Lys
- rs1255911887
- ClinGen CA367400084
- ClinVar RCV001931730
- ClinVar RCV003326005
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Population evidence available
- Structural context available
- Cited in: Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. (PMID 8433729)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)