A25T (p.Ala25Thr) variant of GAA (Lysosomal alpha-glucosidase)
A25T (p.Ala25Thr) 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.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- gnomAD 17-80104659-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.22
- MetaLR 0.39
- MetaSVM -0.70
- CADD 9.80
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available