S43T (p.Ser43Thr) variant of GAA (Lysosomal alpha-glucosidase)
S43T (p.Ser43Thr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S43T (p.Ser43Thr) variant details
- p.Ser43Thr
- gnomAD 17-80104714-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.19
- MetaLR 0.38
- MetaSVM -0.54
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available