E9Q (p.Glu9Gln) variant of GCK (Hexokinase-4)
E9Q (p.Glu9Gln) in GCK (Hexokinase-4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- Ensembl rs1131691483
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.49
- AlphaMissense 0.20
- MetaLR 0.73
- MetaSVM -0.11
- CADD 20.10
- PolyPhen-2 0.15
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available