R63C (p.Arg63Cys) variant of AGL (Glycogen debranching enzyme)
R63C (p.Arg63Cys) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- rs778524671
- ClinGen CA966081
- cosmic curated COSV10513
- ClinVar RCV001216589
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -0.87
- CADD 24.60
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)