Q58* (p.Gln58Ter) variant of GAA (Lysosomal alpha-glucosidase)
Q58* (p.Gln58Ter) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs201185475
- ClinGen CA274104
- ClinVar RCV000169263
- 1000Genomes rs201185475
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- 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)