S45P (p.Ser45Pro) variant of GAA (Lysosomal alpha-glucosidase)
S45P (p.Ser45Pro) 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 0.23 / 1. The record also includes population frequency data and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- gnomAD rs1322709296
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.23
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.73
- CADD 6.83
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available