G41* (p.Gly41Ter) variant of AGL (Glycogen debranching enzyme)
G41* (p.Gly41Ter) in AGL (Glycogen debranching enzyme) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G41* (p.Gly41Ter) variant details
- p.Gly41Ter
- rs1553183178
- ClinGen CA341329109
- ClinVar RCV000668290
- Ensembl rs1553183178
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.975
- CADD 39.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)