L12L (p.Leu12Leu) variant of GAA (Lysosomal alpha-glucosidase)
L12L (p.Leu12Leu) 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.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs200548806
- gnomAD 17-80104622-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.58
- Population evidence available
- Structural context available
- Literature evidence available