R24I (p.Arg24Ile) variant of AGL (Glycogen debranching enzyme)
R24I (p.Arg24Ile) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R24I (p.Arg24Ile) variant details
- p.Arg24Ile
- rs772905291
- ClinGen CA966004
- ClinVar RCV001240973
- ExAC rs772905291
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.59
- MetaSVM 0.26
- CADD 27.70
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)