A23T (p.Ala23Thr) variant of EPAS1 (Q99814)
A23T (p.Ala23Thr) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- ExAC rs768863978
- gnomAD rs768863978
- Missense
- MetaLR 0.22
- MetaSVM -0.45
- SIFT 0.00
- Structural context available