A7E (p.Ala7Glu) variant of ELN (Elastin)
A7E (p.Ala7Glu) in ELN (Elastin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- 1000Genomes rs559210020
- ExAC rs559210020
- TOPMed rs559210020
- gnomAD rs559210020
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available