G528A (p.Gly528Ala) variant of GAA (Lysosomal alpha-glucosidase)
G528A (p.Gly528Ala) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G528A (p.Gly528Ala) variant details
- p.Gly528Ala
- rs794727016
- ClinGen CA239454
- ClinVar RCV000173980
- ClinVar RCV002516609
- Conflicting interpretations
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.80
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)