A25A (p.Ala25Ala) variant of GAA (Lysosomal alpha-glucosidase)
A25A (p.Ala25Ala) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A25A (p.Ala25Ala) variant details
- p.Ala25Ala
- rs1366159150
- gnomAD 17-80104661-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 4.21
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available