Q18* (p.Gln18Ter) variant of GCK (Hexokinase-4)
Q18* (p.Gln18Ter) in GCK (Hexokinase-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs1300199281
- ClinGen CA367403853
- ClinVar RCV002227421
- TOPMed rs1300199281
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 0.98
- SIFT 0.34
- EVE 0.08
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)