G54R (p.Gly54Arg) variant of AGL (Glycogen debranching enzyme)
G54R (p.Gly54Arg) 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 Inborn genetic diseases; Glycogen storage disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- rs781683317
- ClinGen CA966075
- ClinVar RCV003005271
- ClinVar RCV004978463
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.26
- MetaSVM -0.53
- CADD 27.50
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)