G36S (p.Gly36Ser) variant of AGL (Glycogen debranching enzyme)
G36S (p.Gly36Ser) 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 0.59 / 1. The record also includes published literature and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- rs746977667
- ClinGen CA341328994
- ClinVar RCV001344016
- Ensembl rs746977667
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.29
- MetaSVM -0.39
- CADD 29.80
- 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)