G28E (p.Gly28Glu) variant of AGL (Glycogen debranching enzyme)
G28E (p.Gly28Glu) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- rs752771103
- ClinGen CA966055
- ClinVar RCV001366400
- ExAC rs752771103
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.77
- ESM-1b 0.49
- AlphaMissense 0.37
- MetaLR 0.67
- MetaSVM 0.46
- CADD 27.20
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-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)