E66G (p.Glu66Gly) variant of GLA (Alpha-galactosidase A)
E66G (p.Glu66Gly) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease; not provided. 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.
E66G (p.Glu66Gly) variant details
- p.Glu66Gly
- rs869312264
- ClinGen CA352977
- ClinVar RCV003487869
- ClinVar RCV003779245
- Likely pathogenic
- Fabry disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.98
- MetaLR 1.00
- MetaSVM 0.82
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Fabry disease; not provided)
- EBI: Likely pathogenic (in FABRYD)
- UniProt: Likely pathogenic (in FABRYD)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)