D404N (p.Asp404Asn) variant of GAA (Lysosomal alpha-glucosidase)
D404N (p.Asp404Asn) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D404N (p.Asp404Asn) variant details
- p.Asp404Asn
- rs141533320
- ClinGen CA8815234
- cosmic curated COSV10016
- ClinVar RCV000813939
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.87
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Two clinical forms of glycogen-storage disease type II in two generations of the same family. (PMID 16433701)
- Cited in: Pompe Disease. (PMID 20301438)