I9V (p.Ile9Val) variant of AGL (Glycogen debranching enzyme)
I9V (p.Ile9Val) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- rs1263396578
- ClinGen CA341323520
- ClinVar RCV000821038
- TOPMed rs1263396578
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -0.95
- CADD 15.24
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)