S9Y (p.Ser9Tyr) variant of GAA (Lysosomal alpha-glucosidase)
S9Y (p.Ser9Tyr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- gnomAD 17-80104612-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.41
- MetaLR 0.55
- MetaSVM -0.28
- CADD 19.20
- PolyPhen-2 0.46
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available