A22E (p.Ala22Glu) variant of GAA (Lysosomal alpha-glucosidase)
A22E (p.Ala22Glu) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- gnomAD 17-80104651-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.41
- MetaLR 0.36
- MetaSVM -0.65
- CADD 9.05
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available