S49P (p.Ser49Pro) variant of EPAS1 (Q99814)
S49P (p.Ser49Pro) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- ExAC rs763745333
- gnomAD rs763745333
- Missense
- MetaLR 0.10
- MetaSVM -0.95
- SIFT 0.01
- Structural context available