L42L (p.Leu42Leu) variant of GAA (Lysosomal alpha-glucosidase)
L42L (p.Leu42Leu) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- gnomAD 17-80104710-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 3.54
- Population evidence available
- Structural context available
- Literature evidence available