A14A (p.Ala14Ala) variant of GAA (Lysosomal alpha-glucosidase)
A14A (p.Ala14Ala) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs141377453
- gnomAD 17-80104628-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0849
- CADD 0.59
- Population evidence available
- Structural context available
- Literature evidence available