C558Y (p.Cys558Tyr) variant of GAA (Lysosomal alpha-glucosidase)
C558Y (p.Cys558Tyr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C558Y (p.Cys558Tyr) variant details
- p.Cys558Tyr
- rs2510378592
- ClinGen CA401368933
- ClinVar RCV003229549
- ClinVar RCV005406653
- Conflicting interpretations
- Glycogen storage disease, type II; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.88
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II; not specified)
- EBI: Likely pathogenic (in LOPD)
- UniProt: Likely pathogenic (in LOPD)
- 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)