H56Y (p.His56Tyr) variant of GAA (Lysosomal alpha-glucosidase)
H56Y (p.His56Tyr) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H56Y (p.His56Tyr) variant details
- p.His56Tyr
- ExAC rs781650771
- TOPMed rs781650771
- gnomAD rs781650771
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.49
- CADD 0.03
- PolyPhen-2 0.04
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available