A379V (p.Ala379Val) variant of GCK (Hexokinase-4)
A379V (p.Ala379Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
A379V (p.Ala379Val) variant details
- p.Ala379Val
- rs193922265
- ClinGen CA367398790
- cosmic curated COSV56268
- ClinVar RCV000992036
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- CADD 32.00
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Population evidence available
- Structural context available
- Cited in: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)
- Cited in: Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young… (PMID 18322640)