P39L (p.Pro39Leu) variant of GAA (Lysosomal alpha-glucosidase)
P39L (p.Pro39Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- rs1567825457
- ClinGen CA401360282
- ClinVar RCV000729535
- TOPMed rs1567825457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.19
- MetaLR 0.34
- MetaSVM -0.65
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available