L27L (p.Leu27Leu) variant of GAA (Lysosomal alpha-glucosidase)
L27L (p.Leu27Leu) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L27L (p.Leu27Leu) variant details
- p.Leu27Leu
- rs538605208
- gnomAD 17-80104665-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0935
- CADD 1.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available