A387E (p.Ala387Glu) variant of GCK (Hexokinase-4)
A387E (p.Ala387Glu) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A387E (p.Ala387Glu) variant details
- p.Ala387Glu
- rs193921338
- ClinGen CA213725
- ClinVar RCV000029844
- ClinVar RCV003883122
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)