E9* (p.Glu9Ter) variant of GCK (Hexokinase-4)
E9* (p.Glu9Ter) in GCK (Hexokinase-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E9* (p.Glu9Ter) variant details
- p.Glu9Ter
- rs1131691483
- ClinGen CA367358148
- ClinVar RCV000494362
- ClinVar RCV002463682
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.20
- MetaLR 0.73
- MetaSVM -0.11
- PolyPhen-2 0.15
- SIFT 0.53
- MutPred 0.23
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)