E21Q (p.Glu21Gln) variant of EPHA3 (Ephrin type-A receptor 3)
E21Q (p.Glu21Gln) in EPHA3 (Ephrin type-A receptor 3) 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.
E21Q (p.Glu21Gln) variant details
- p.Glu21Gln
- 1000Genomes rs141456190
- ESP rs141456190
- ExAC rs141456190
- TOPMed rs141456190
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available