S46F (p.Ser46Phe) variant of GAA (Lysosomal alpha-glucosidase)
S46F (p.Ser46Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S46F (p.Ser46Phe) variant details
- p.Ser46Phe
- gnomAD rs1470811257
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- MetaLR 0.47
- MetaSVM -0.57
- CADD 9.09
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available