P522S (p.Pro522Ser) variant of GAA (Lysosomal alpha-glucosidase)
P522S (p.Pro522Ser) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P522S (p.Pro522Ser) variant details
- p.Pro522Ser
- rs892129065
- ClinGen CA294895008
- ClinVar RCV001248865
- ClinVar RCV001780189
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.93
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. (PMID 18425781)
- Cited in: Pompe Disease. (PMID 20301438)