G81D (p.Gly81Asp) variant of GCK (Hexokinase-4)
G81D (p.Gly81Asp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G81D (p.Gly81Asp) variant details
- p.Gly81Asp
- rs866182415
- ClinGen CA157919284
- ClinVar RCV004556149
- Ensembl rs866182415
- Likely pathogenic
- Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)