A60T (p.Ala60Thr) variant of EPAS1 (Q99814)
A60T (p.Ala60Thr) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- Ensembl rs2103616329
- Missense
- MetaLR 0.02
- MetaSVM -0.96
- SIFT 0.65
- Structural context available