S45A (p.Ser45Ala) variant of GAA (Lysosomal alpha-glucosidase)
S45A (p.Ser45Ala) 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 0.42 / 1. The record also includes published literature and structural context.
S45A (p.Ser45Ala) variant details
- p.Ser45Ala
- rs1322709296
- ClinGen CA401360312
- ClinVar RCV001235043
- gnomAD rs1322709296
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 0.61
- MutPred 0.22
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
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