D52E (p.Asp52Glu) variant of EPAS1 (Q99814)
D52E (p.Asp52Glu) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- Ensembl rs2103616296
- Missense
- MetaLR 0.19
- MetaSVM -0.55
- SIFT 0.00
- Structural context available