F35L (p.Phe35Leu) variant of GAA (Lysosomal alpha-glucosidase)
F35L (p.Phe35Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
F35L (p.Phe35Leu) variant details
- p.Phe35Leu
- TOPMed rs2039029036
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.30
- MetaLR 0.27
- MetaSVM -0.68
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available