S43N (p.Ser43Asn) variant of GAA (Lysosomal alpha-glucosidase)
S43N (p.Ser43Asn) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- gnomAD 17-80104714-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.21
- MetaLR 0.38
- MetaSVM -0.54
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available