E51* (p.Glu51Ter) variant of GCK (Hexokinase-4)
E51* (p.Glu51Ter) 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 0.55 / 1. The record also includes published literature and structural context.
E51* (p.Glu51Ter) variant details
- p.Glu51Ter
- rs2096283124
- ClinGen CA367403382
- ClinVar RCV002392406
- ClinVar RCV005645388
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.45
- PolyPhen-2 0.33
- SIFT 0.32
- EVE 0.09
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)