A176G (p.Ala176Gly) variant of GCK (Hexokinase-4)
A176G (p.Ala176Gly) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic/likely risk allele in the context of Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
A176G (p.Ala176Gly) variant details
- p.Ala176Gly
- rs193922304
- ClinGen CA213796
- ClinVar RCV000029889
- ClinVar RCV002463598
- Likely pathogenic/Likely risk allele
- Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.34
- ClinVar: Likely pathogenic/Likely risk allele (Maturity-onset diabetes of the young; Maturity-onset diabetes of)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)