T332M (p.Thr332Met) variant of GCK (Hexokinase-4)
T332M (p.Thr332Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T332M (p.Thr332Met) variant details
- p.Thr332Met
- rs770231054
- ClinGen CA4239471
- ClinVar RCV002463843
- ExAC rs770231054
- Likely pathogenic
- Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.94
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)