V19A (p.Val19Ala) variant of GAA (Lysosomal alpha-glucosidase)
V19A (p.Val19Ala) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- gnomAD 17-80104642-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.27
- MetaLR 0.42
- MetaSVM -0.60
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available