T2R (p.Thr2Arg) variant of EPAS1 (Q99814)
T2R (p.Thr2Arg) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
T2R (p.Thr2Arg) variant details
- p.Thr2Arg
- Ensembl rs2104831352
- Missense
- MetaLR 0.14
- MetaSVM -0.96
- SIFT 0.11
- Structural context available