Q32* (p.Gln32Ter) variant of AGL (Glycogen debranching enzyme)
Q32* (p.Gln32Ter) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- rs786204489
- ClinGen CA273996
- ClinVar RCV000169156
- ClinVar RCV006450041
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type III. (PMID 20301788)
- Cited in: Glycogen storage disease type III diagnosis and management guidelines. (PMID 20631546)