G576D (p.Gly576Asp) variant of GAA (Lysosomal alpha-glucosidase)
G576D (p.Gly576Asp) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G576D (p.Gly576Asp) variant details
- p.Gly576Asp
- rs1555601255
- ClinGen CA401369098
- ClinVar RCV000631054
- Ensembl rs1555601255
- Conflicting interpretations
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.94
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance (in IOPD)
- UniProt: Uncertain significance (in IOPD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)