L18F (p.Leu18Phe) variant of GAA (Lysosomal alpha-glucosidase)
L18F (p.Leu18Phe) 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 Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs1487798738
- ClinGen CA401360057
- ClinVar RCV002304196
- TOPMed rs1487798738
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.08
- MetaLR 0.42
- MetaSVM -0.60
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.29
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
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