L36M (p.Leu36Met) variant of GAA (Lysosomal alpha-glucosidase)
L36M (p.Leu36Met) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L36M (p.Leu36Met) variant details
- p.Leu36Met
- gnomAD 17-80104692-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.22
- MetaLR 0.41
- MetaSVM -0.61
- CADD 0.06
- PolyPhen-2 0.01
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available