L42V (p.Leu42Val) variant of GAA (Lysosomal alpha-glucosidase)
L42V (p.Leu42Val) 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.
L42V (p.Leu42Val) variant details
- p.Leu42Val
- gnomAD 17-80104710-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.12
- MetaLR 0.40
- MetaSVM -0.65
- CADD 13.60
- PolyPhen-2 0.11
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available