S45C (p.Ser45Cys) variant of GAA (Lysosomal alpha-glucosidase)
S45C (p.Ser45Cys) 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 0.22 / 1. The record also includes population frequency data and structural context.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- gnomAD rs1179395024
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.26
- MetaLR 0.42
- MetaSVM -0.64
- CADD 4.46
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available