E256K (p.Glu256Lys) variant of GCK (Hexokinase-4)
E256K (p.Glu256Lys) 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; Maturity-onset diabetes of the young; Hyperinsulinemic hypog. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E256K (p.Glu256Lys) variant details
- p.Glu256Lys
- rs769268803
- ClinGen CA4239527
- ClinVar RCV000255753
- ClinVar RCV000763583
- Pathogenic
- Monogenic diabetes; Maturity-onset diabetes of the young; Hyperinsulinemic hypog
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.98
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes; Maturity-onset diabetes of the young; Hyperi)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)