D489N (p.Asp489Asn) variant of GAA (Lysosomal alpha-glucosidase)
D489N (p.Asp489Asn) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
D489N (p.Asp489Asn) variant details
- p.Asp489Asn
- rs398123169
- ClinGen CA220390
- ClinVar RCV000173646
- ClinVar RCV000790665
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD and LOPD)
- UniProt: Pathogenic (in IOPD and LOPD)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PMID 16917947)
- Cited in: Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. (PMID 18429042)