S46S (p.Ser46Ser) variant of GAA (Lysosomal alpha-glucosidase)
S46S (p.Ser46Ser) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S46S (p.Ser46Ser) variant details
- p.Ser46Ser
- rs753375900
- gnomAD 17-80104724-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0967
- CADD 2.26
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Literature evidence available