E40D (p.Glu40Asp) variant of EPAS1 (Q99814)
E40D (p.Glu40Asp) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- Ensembl rs2103616229
- Missense
- MetaLR 0.07
- MetaSVM -1.03
- SIFT 0.00
- Structural context available