A25V (p.Ala25Val) variant of GAA (Lysosomal alpha-glucosidase)
A25V (p.Ala25Val) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs768867363
- ClinGen CA8814782
- ClinVar RCV000593045
- ClinVar RCV002530965
- Uncertain significance
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.20
- MetaLR 0.34
- MetaSVM -0.78
- CADD 0.05
- PolyPhen-2 0.01
- SIFT 0.72
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-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)