H50P (p.His50Pro) variant of EPAS1 (Q99814)
H50P (p.His50Pro) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
H50P (p.His50Pro) variant details
- p.His50Pro
- Ensembl rs2103616288
- Missense
- MetaLR 0.14
- MetaSVM -0.81
- SIFT 0.00
- Structural context available