Q18H (p.Gln18His) variant of GCK (Hexokinase-4)
Q18H (p.Gln18His) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes population frequency data and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- rs2096283329
- ClinGen CA367403838
- ClinVar RCV002222321
- ClinVar RCV004990746
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.68
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available