A188V (p.Ala188Val) variant of GCK (Hexokinase-4)
A188V (p.Ala188Val) 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 Monogenic diabetes; Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A188V (p.Ala188Val) variant details
- p.Ala188Val
- rs193922307
- ClinGen CA213802
- ClinVar RCV002463600
- ClinVar RCV004700287
- Likely pathogenic/Likely risk allele
- Monogenic diabetes; Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic/Likely risk allele (Monogenic diabetes; Maturity-onset diabetes of the young; not pr)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the… (PMID 16965331)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)