P39S (p.Pro39Ser) variant of GAA (Lysosomal alpha-glucosidase)
P39S (p.Pro39Ser) 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 0.36 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- ExAC rs759236536
- gnomAD rs759236536
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.08
- CADD 19.80
- PolyPhen-2 0.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available