E51Q (p.Glu51Gln) variant of GAA (Lysosomal alpha-glucosidase)
E51Q (p.Glu51Gln) in GAA (Lysosomal alpha-glucosidase) is a missense change. 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.
E51Q (p.Glu51Gln) variant details
- p.Glu51Gln
- gnomAD 17-80104737-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.27
- MetaLR 0.45
- MetaSVM -0.73
- CADD 2.04
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available