E339K (p.Glu339Lys) variant of GCK (Hexokinase-4)
E339K (p.Glu339Lys) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E339K (p.Glu339Lys) variant details
- p.Glu339Lys
- rs397514580
- ClinGen CA130526
- ClinVar RCV000032978
- ClinVar RCV003883126
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Insight into the biochemical characteristics of a novel glucokinase gene mutation. (PMID 21104275)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)