N49D (p.Asn49Asp) variant of AGL (Glycogen debranching enzyme)
N49D (p.Asn49Asp) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- rs751982392
- ClinGen CA966073
- cosmic curated COSV10960
- ClinVar RCV001921087
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.35
- MetaSVM -0.28
- CADD 25.40
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00014)
- 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)