E66Q (p.Glu66Gln) variant of GLA (Alpha-galactosidase A)
E66Q (p.Glu66Gln) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E66Q (p.Glu66Gln) variant details
- p.Glu66Gln
- rs104894833
- ClinGen CA021590
- ClinVar RCV000011470
- ClinVar RCV000150750
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.93
- MetaLR 1.00
- MetaSVM 0.85
- CADD 28.60
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the 1KG:JPT population (allele frequency 0.0068)
- Structural context available
- 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)
- Cited in: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A… (PMID 19621417)