E17Q (p.Glu17Gln) variant of GCK (Hexokinase-4)
E17Q (p.Glu17Gln) 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 type 2; Permanent neonatal diabetes mellitu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- gnomAD rs1184614923
- Uncertain significance
- Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.58
- CADD 19.40
- PolyPhen-2 0.08
- SIFT 0.49
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 2; Permanent neonatal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available