S20F (p.Ser20Phe) variant of GAA (Lysosomal alpha-glucosidase)
S20F (p.Ser20Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- ExAC rs752449306
- gnomAD rs752449306
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.25
- MetaLR 0.37
- MetaSVM -0.68
- CADD 0.94
- PolyPhen-2 0.04
- SIFT 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available