P47S (p.Pro47Ser) variant of GAA (Lysosomal alpha-glucosidase)
P47S (p.Pro47Ser) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- TOPMed rs969541657
- gnomAD rs969541657
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.55
- CADD 0.03
- SIFT 0.93
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available