Q26* (p.Gln26Ter) variant of GCK (Hexokinase-4)
Q26* (p.Gln26Ter) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- rs193922329
- ClinGen CA213850
- ClinVar RCV000029919
- ClinVar RCV000255007
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.10
- MetaLR 0.69
- MetaSVM -0.11
- CADD 37.00
- PolyPhen-2 0.97
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)