L35* (p.Leu35Ter) variant of AGL (Glycogen debranching enzyme)
L35* (p.Leu35Ter) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L35* (p.Leu35Ter) variant details
- p.Leu35Ter
- rs1057516567
- ClinGen CA16040820
- ClinVar RCV000410214
- Ensembl rs1057516567
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-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)