M393T (p.Met393Thr) variant of GCK (Hexokinase-4)
M393T (p.Met393Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/likely risk allele in the context of not provided; Maturity-onset diabetes of the young type 2; Maturity-onset diabet. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
M393T (p.Met393Thr) variant details
- p.Met393Thr
- rs2096271425
- ClinGen CA367398600
- ClinVar RCV001261199
- ClinVar RCV002463795
- Pathogenic/Likely pathogenic/Likely risk allele
- not provided; Maturity-onset diabetes of the young type 2; Maturity-onset diabet
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.93
- MetaLR 0.83
- MetaSVM 0.82
- PolyPhen-2 0.88
- SIFT 0.09
- EVE 0.14
- ClinVar: Pathogenic/Likely pathogenic/Likely risk allele (not provided; Maturity-onset diabetes of the young type 2; Matur)
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Structural context available
- Cited in: Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated… (PMID 25015100)
- Cited in: Neonatal diabetes mellitus due to complete glucokinase deficiency. (PMID 11372010)