A22A (p.Ala22Ala) variant of GAA (Lysosomal alpha-glucosidase)
A22A (p.Ala22Ala) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- gnomAD 17-80104652-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 2.98
- Population evidence available
- Structural context available
- Literature evidence available