Q6* (p.Gln6Ter) variant of AGL (Glycogen debranching enzyme)
Q6* (p.Gln6Ter) in AGL (Glycogen debranching enzyme) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- rs113994126
- ClinGen CA114753
- ClinVar RCV000001153
- ClinVar RCV000020373
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that… (PMID 8755644)
- Cited in: Glycogen Storage Disease Type III. (PMID 20301788)