G117R (p.Gly117Arg) variant of GCK (Hexokinase-4)
G117R (p.Gly117Arg) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G117R (p.Gly117Arg) variant details
- p.Gly117Arg
- rs748554061
- ClinGen CA367402585
- ClinVar RCV002019233
- ClinVar RCV003446984
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.97
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available