A379E (p.Ala379Glu) variant of GCK (Hexokinase-4)
A379E (p.Ala379Glu) 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.
A379E (p.Ala379Glu) variant details
- p.Ala379Glu
- rs193922265
- ClinGen CA213717
- ClinVar RCV000029840
- ClinVar RCV001642240
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.98
- 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: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)