L18L (p.Leu18Leu) variant of GAA (Lysosomal alpha-glucosidase)
L18L (p.Leu18Leu) 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.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs886053542
- gnomAD 17-80104640-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.082
- CADD 0.23
- Most common in the East Asian population (allele frequency 0.00053)
- Structural context available
- Literature evidence available