Q279E (p.Gln279Glu) variant of GLA (Alpha-galactosidase A)
Q279E (p.Gln279Glu) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q279E (p.Gln279Glu) variant details
- p.Gln279Glu
- rs28935485
- ClinGen CA022117
- ClinVar RCV000011468
- ClinVar RCV001781218
- Pathogenic/Likely pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.78
- AlphaMissense 0.12
- MetaLR 0.95
- MetaSVM 1.07
- CADD 22.60
- PolyPhen-2 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Population evidence available
- Structural context available
- Cited in: Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. (PMID 10838196)
- Cited in: Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease. (PMID 1315715)