V38A (p.Val38Ala) variant of GAA (Lysosomal alpha-glucosidase)
V38A (p.Val38Ala) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V38A (p.Val38Ala) variant details
- p.Val38Ala
- gnomAD 17-80104699-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.16
- MetaLR 0.37
- MetaSVM -0.74
- CADD 8.46
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available