Q24* (p.Gln24Ter) variant of GCK (Hexokinase-4)
Q24* (p.Gln24Ter) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs1281712444
- ClinGen CA367403752
- ClinVar RCV000992060
- ClinVar RCV002363516
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)