A24A (p.Ala24Ala) variant of GAA (Lysosomal alpha-glucosidase)
A24A (p.Ala24Ala) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A24A (p.Ala24Ala) variant details
- p.Ala24Ala
- rs747380728
- gnomAD 17-80104658-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.61
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available