A378T (p.Ala378Thr) variant of GCK (Hexokinase-4)
A378T (p.Ala378Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A378T (p.Ala378Thr) variant details
- p.Ala378Thr
- rs104894016
- ClinGen CA126216
- ClinVar RCV000017527
- ClinVar RCV002513080
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 28.30
- PolyPhen-2 0.50
- SIFT 0.02
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)