E40* (p.Glu40Ter) variant of GCK (Hexokinase-4)
E40* (p.Glu40Ter) in GCK (Hexokinase-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PNDM1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- rs794727236
- ClinGen CA367403485
- ClinVar RCV003991166
- Pathogenic
- in PNDM1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.36
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)