L32I (p.Leu32Ile) variant of GAA (Lysosomal alpha-glucosidase)
L32I (p.Leu32Ile) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L32I (p.Leu32Ile) variant details
- p.Leu32Ile
- gnomAD 17-80104680-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.26
- MetaLR 0.65
- MetaSVM -0.09
- CADD 14.20
- PolyPhen-2 0.98
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available