E30G (p.Glu30Gly) variant of AGL (Glycogen debranching enzyme)
E30G (p.Glu30Gly) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- rs2101084442
- ClinGen CA341328884
- ClinVar RCV003091948
- Ensembl rs2101084442
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.52
- ESM-1b 0.89
- AlphaMissense 0.56
- MetaLR 0.33
- MetaSVM -0.49
- CADD 23.50
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)