A25S (p.Ala25Ser) variant of GAA (Lysosomal alpha-glucosidase)
A25S (p.Ala25Ser) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- gnomAD 17-80104659-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.21
- MetaLR 0.40
- MetaSVM -0.57
- CADD 8.56
- PolyPhen-2 0.10
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available