L49L (p.Leu49Leu) variant of GAA (Lysosomal alpha-glucosidase)
L49L (p.Leu49Leu) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs915625623
- gnomAD 17-80104733-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 1.12
- Population evidence available
- Structural context available
- Literature evidence available