V48V (p.Val48Val) variant of GAA (Lysosomal alpha-glucosidase)
V48V (p.Val48Val) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V48V (p.Val48Val) variant details
- p.Val48Val
- rs1055575232
- gnomAD 17-80104730-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0818
- CADD 0.17
- Population evidence available
- Structural context available
- Literature evidence available