A387V (p.Ala387Val) variant of GCK (Hexokinase-4)
A387V (p.Ala387Val) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A387V (p.Ala387Val) variant details
- p.Ala387Val
- rs193921338
- ClinGen CA213727
- ClinVar RCV000029845
- ClinVar RCV000493278
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)