R34* (p.Arg34Ter) variant of AGL (Glycogen debranching enzyme)
R34* (p.Arg34Ter) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs781580050
- ClinGen CA273900
- ClinVar RCV000169056
- ClinVar RCV004745247
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 46.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-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)