E28K (p.Glu28Lys) variant of GCK (Hexokinase-4)
E28K (p.Glu28Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs2128823215
- ClinGen CA367403690
- NCI-TCGA Cosmic COSV6175
- cosmic curated COSV61753
- Uncertain significance
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.71
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)