L42P (p.Leu42Pro) variant of GAA (Lysosomal alpha-glucosidase)
L42P (p.Leu42Pro) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- gnomAD 17-80104711-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.21
- MetaLR 0.33
- MetaSVM -0.78
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available