A208T (p.Ala208Thr) variant of GCK (Hexokinase-4)
A208T (p.Ala208Thr) 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.
A208T (p.Ala208Thr) variant details
- p.Ala208Thr
- rs1476637197
- ClinGen CA367401322
- ClinVar RCV000991306
- ClinVar RCV003318505
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.91
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)