G2* (p.Gly2Ter) variant of GAA (Lysosomal alpha-glucosidase)
G2* (p.Gly2Ter) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G2* (p.Gly2Ter) variant details
- p.Gly2Ter
- rs1567825175
- ClinGen CA401359822
- cosmic curated COSV10016
- ClinVar RCV000678477
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)