V48D (p.Val48Asp) variant of GAA (Lysosomal alpha-glucosidase)
V48D (p.Val48Asp) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V48D (p.Val48Asp) variant details
- p.Val48Asp
- gnomAD 17-80104729-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.28
- MetaLR 0.35
- MetaSVM -0.75
- CADD 0.13
- PolyPhen-2 0.02
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available