Q40* (p.Gln40Ter) variant of AGL (Glycogen debranching enzyme)
Q40* (p.Gln40Ter) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- rs771961377
- gnomAD 1-99861538-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cardiac Pathology in Glycogen Storage Disease Type III. (PMID 23430941)
- Cited in: Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in… (PMID 20648714)