L26L (p.Leu26Leu) variant of GAA (Lysosomal alpha-glucosidase)
L26L (p.Leu26Leu) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L26L (p.Leu26Leu) variant details
- p.Leu26Leu
- rs2143824668
- gnomAD 17-80104664-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 1.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available