G385E (p.Gly385Glu) variant of GCK (Hexokinase-4)
G385E (p.Gly385Glu) 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 published literature and structural context.
G385E (p.Gly385Glu) variant details
- p.Gly385Glu
- rs2096271537
- ClinGen CA367398712
- ClinVar RCV001262180
- ClinVar RCV002463796
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)