L18del (p.Leu18del) variant of GAA (Lysosomal alpha-glucosidase)
L18del (p.Leu18del) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L18del (p.Leu18del) variant details
- gnomAD 17-80104636-CCCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available