Q18R (p.Gln18Arg) variant of GCK (Hexokinase-4)
Q18R (p.Gln18Arg) 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.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- ExAC rs765737449
- TOPMed rs765737449
- gnomAD rs765737449
- Uncertain significance
- Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.69
- CADD 22.00
- PolyPhen-2 0.99
- SIFT 0.42
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available