Y61* (p.Tyr61Ter) variant of GCK (Hexokinase-4)
Y61* (p.Tyr61Ter) in GCK (Hexokinase-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MODY2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y61* (p.Tyr61Ter) variant details
- p.Tyr61Ter
- rs780612692
- ClinGen CA367403288
- ClinVar RCV000987868
- ClinVar RCV002409317
- Pathogenic
- in MODY2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- 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)