E14Q (p.Glu14Gln) variant of GCK (Hexokinase-4)
E14Q (p.Glu14Gln) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- TOPMed rs1454187488
- gnomAD rs1454187488
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.60
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.39
- ClinVar: Uncertain significance (Monogenic diabetes)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available