S9F (p.Ser9Phe) variant of GAA (Lysosomal alpha-glucosidase)
S9F (p.Ser9Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs1598568879
- ClinGen CA401359935
- ClinVar RCV001313981
- TOPMed rs1598568879
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.46
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.48
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
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