Q57E (p.Gln57Glu) variant of GAA (Lysosomal alpha-glucosidase)
Q57E (p.Gln57Glu) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q57E (p.Gln57Glu) variant details
- p.Gln57Glu
- gnomAD 17-80104755-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.65
- CADD 4.50
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available