A60E (p.Ala60Glu) variant of EPAS1 (Q99814)
A60E (p.Ala60Glu) in EPAS1 (Q99814) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A60E (p.Ala60Glu) variant details
- p.Ala60Glu
- TOPMed rs1400888506
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available