G2A (p.Gly2Ala) variant of GAA (Lysosomal alpha-glucosidase)
G2A (p.Gly2Ala) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- rs1245992455
- ClinGen CA401359825
- ClinVar RCV000593249
- ClinVar RCV001854074
- Uncertain significance
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.28
- MetaLR 0.38
- MetaSVM -0.64
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-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)