T711A (p.Thr711Ala) variant of GAA (Lysosomal alpha-glucosidase)
T711A (p.Thr711Ala) 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 Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
T711A (p.Thr711Ala) variant details
- p.Thr711Ala
- rs2143896492
- ClinGen CA401370553
- ClinVar RCV001961567
- Ensembl rs2143896492
- Conflicting interpretations
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.94
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II)
- EBI: Likely pathogenic (in IOPD)
- UniProt: Likely pathogenic (in IOPD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)