M1I (p.Met1Ile) variant of AGL (Glycogen debranching enzyme)
M1I (p.Met1Ile) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1553181400
- ClinGen CA341323353
- ClinVar RCV000666939
- Likely pathogenic
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.52
- MetaSVM 0.08
- CADD 25.60
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Glycogen storage disease type III)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)