L42R (p.Leu42Arg) variant of GAA (Lysosomal alpha-glucosidase)
L42R (p.Leu42Arg) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L42R (p.Leu42Arg) variant details
- p.Leu42Arg
- gnomAD 17-80104711-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.19
- MetaLR 0.32
- MetaSVM -0.69
- CADD 9.35
- PolyPhen-2 0.13
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available