A23E (p.Ala23Glu) variant of EPAS1 (Q99814)
A23E (p.Ala23Glu) in EPAS1 (Q99814) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- gnomAD rs1320324950
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available