A14T (p.Ala14Thr) variant of GAA (Lysosomal alpha-glucosidase)
A14T (p.Ala14Thr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD 17-80104626-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.19
- MetaLR 0.34
- MetaSVM -0.78
- CADD 11.40
- PolyPhen-2 0.03
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available