E7D (p.Glu7Asp) variant of GLA (Alpha-galactosidase A)
E7D (p.Glu7Asp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- rs1555987217
- ClinGen CA413937858
- ClinVar RCV003030100
- gnomAD rs1555987217
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.28
- MetaLR 0.98
- MetaSVM 1.42
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.8e-05)
- 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)