A55V (p.Ala55Val) variant of GAA (Lysosomal alpha-glucosidase)
A55V (p.Ala55Val) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- gnomAD 17-80104750-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.28
- MetaLR 0.45
- MetaSVM -0.57
- CADD 7.91
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available