G318W (p.Gly318Trp) variant of GCK (Hexokinase-4)
G318W (p.Gly318Trp) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G318W (p.Gly318Trp) variant details
- p.Gly318Trp
- rs193922340
- ClinGen CA213870
- ClinVar RCV000029931
- ClinVar RCV002371789
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)