G2R (p.Gly2Arg) variant of AGL (Glycogen debranching enzyme)
G2R (p.Gly2Arg) 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 0.20 / 1. The record also includes published literature and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs1218915839
- ClinGen CA341323359
- ClinVar RCV001320478
- gnomAD rs1218915839
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.17
- MetaSVM -0.82
- CADD 21.90
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)