R8* (p.Arg8Ter) variant of AGL (Glycogen debranching enzyme)
R8* (p.Arg8Ter) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R8* (p.Arg8Ter) variant details
- p.Arg8Ter
- rs1057516870
- ClinGen CA16040818
- ClinVar RCV000410062
- gnomAD rs1057516870
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)