A384E (p.Ala384Glu) variant of GCK (Hexokinase-4)
A384E (p.Ala384Glu) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A384E (p.Ala384Glu) variant details
- p.Ala384Glu
- rs1583591747
- ClinGen CA367398725
- NCI-TCGA Cosmic COSV9978
- ClinVar RCV003037213
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: 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)