D645E (p.Asp645Glu) variant of GAA (Lysosomal alpha-glucosidase)
D645E (p.Asp645Glu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D645E (p.Asp645Glu) variant details
- p.Asp645Glu
- rs28940868
- ClinGen CA116610
- ClinVar RCV000055768
- ClinVar RCV001785448
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.80
- CADD 23.60
- 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)
- Population evidence available
- Structural context available
- Cited in: Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele. (PMID 1684505)
- Cited in: Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. (PMID 20080426)