P522A (p.Pro522Ala) variant of GAA (Lysosomal alpha-glucosidase)
P522A (p.Pro522Ala) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P522A (p.Pro522Ala) variant details
- p.Pro522Ala
- rs892129065
- ClinGen CA16041893
- ClinVar RCV000410150
- ClinVar RCV000733496
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.88
- CADD 25.00
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18… (PMID 17643989)
- Cited in: Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. (PMID 18429042)