A14R (p.Ala14Arg) variant of GAA (Lysosomal alpha-glucosidase)
A14R (p.Ala14Arg) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A14R (p.Ala14Arg) variant details
- p.Ala14Arg
- rs2510344258
- ClinGen CA913184761
- ClinVar RCV003159295
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)