E48K (p.Glu48Lys) variant of GCK (Hexokinase-4)
E48K (p.Glu48Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs759514960
- ClinGen CA4239714
- ClinVar RCV001730073
- ClinVar RCV003331193
- Likely benign
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.70
- AlphaMissense 0.34
- MetaLR 0.13
- MetaSVM -0.94
- CADD 21.90
- PolyPhen-2 0.98
- ClinVar: Likely benign (Monogenic diabetes)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)