S9P (p.Ser9Pro) variant of GAA (Lysosomal alpha-glucosidase)
S9P (p.Ser9Pro) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- rs886042671
- ClinGen CA10604542
- ClinVar RCV000345427
- Ensembl rs886042671
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.06
- MetaLR 0.43
- MetaSVM -0.45
- PolyPhen-2 0.84
- SIFT 0.00
- MutPred 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available