G117S (p.Gly117Ser) variant of GCK (Hexokinase-4)
G117S (p.Gly117Ser) 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 0.87 / 1. The record also includes population frequency data and structural context.
G117S (p.Gly117Ser) variant details
- p.Gly117Ser
- cosmic curated COSV61754
- ExAC rs748554061
- TOPMed rs748554061
- gnomAD rs748554061
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.93
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available