L32del (p.Leu32del) variant of GAA (Lysosomal alpha-glucosidase)
L32del (p.Leu32del) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L32del (p.Leu32del) variant details
- rs1278892703
- gnomAD 17-80104676-CCTA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 9.17
- Population evidence available
- Structural context available
- Literature evidence available