L26H (p.Leu26His) variant of GAA (Lysosomal alpha-glucosidase)
L26H (p.Leu26His) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L26H (p.Leu26His) variant details
- p.Leu26His
- gnomAD 17-80104658-TGCAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available