T23A (p.Thr23Ala) variant of GAA (Lysosomal alpha-glucosidase)
T23A (p.Thr23Ala) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T23A (p.Thr23Ala) variant details
- p.Thr23Ala
- rs2289537
- ClinGen CA8814777
- cosmic curated COSV10739
- ClinVar RCV000731715
- Conflicting interpretations
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.30
- MetaLR 0.35
- MetaSVM -0.72
- CADD 6.46
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- 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)