A54T (p.Ala54Thr) variant of EPAS1 (Q99814)
A54T (p.Ala54Thr) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- TOPMed rs1325679208
- gnomAD rs1325679208
- Missense
- MetaLR 0.21
- MetaSVM -0.47
- SIFT 0.00
- Structural context available