H56L (p.His56Leu) variant of GAA (Lysosomal alpha-glucosidase)
H56L (p.His56Leu) 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 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.
H56L (p.His56Leu) variant details
- p.His56Leu
- rs113740017
- ClinGen CA294886644
- ClinVar RCV001059492
- Ensembl rs113740017
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.29
- MetaLR 0.37
- MetaSVM -0.57
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)