L26R (p.Leu26Arg) variant of GAA (Lysosomal alpha-glucosidase)
L26R (p.Leu26Arg) 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 Cardiovascular phenotype; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L26R (p.Leu26Arg) variant details
- p.Leu26Arg
- rs1385098269
- ClinGen CA401360183
- ClinVar RCV000690873
- ClinVar RCV004619384
- Uncertain significance
- Cardiovascular phenotype; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.30
- MetaLR 0.60
- MetaSVM -0.21
- PolyPhen-2 0.94
- SIFT 0.01
- MutPred 0.80
- ClinVar: Uncertain significance (Cardiovascular phenotype; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)