G59E (p.Gly59Glu) variant of GAA (Lysosomal alpha-glucosidase)
G59E (p.Gly59Glu) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- ExAC rs749386653
- gnomAD rs749386653
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.35
- MetaLR 0.34
- MetaSVM -0.65
- CADD 5.86
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available