S20S (p.Ser20Ser) variant of GAA (Lysosomal alpha-glucosidase)
S20S (p.Ser20Ser) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- rs2039027228
- gnomAD 17-80104646-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 2.42
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available