R63H (p.Arg63His) variant of AGL (Glycogen debranching enzyme)
R63H (p.Arg63His) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- rs199958942
- ClinGen CA966082
- cosmic curated COSV54053
- ClinVar RCV001242350
- Uncertain significance
- Glycogen storage disease type III; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.10
- CADD 6.51
- ClinVar: Uncertain significance (Glycogen storage disease type III; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- 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)