D645N (p.Asp645Asn) variant of GAA (Lysosomal alpha-glucosidase)
D645N (p.Asp645Asn) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D645N (p.Asp645Asn) variant details
- p.Asp645Asn
- rs368438393
- ClinGen CA273892
- ClinVar RCV000169030
- ClinVar RCV000483035
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Population evidence available
- Structural context available
- Cited in: A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. (PMID 15145338)
- Cited in: Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. (PMID 18429042)