V73E (p.Val73Glu) variant of CEP290 (Centrosomal protein of 290 kDa)
V73E (p.Val73Glu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
V73E (p.Val73Glu) variant details
- p.Val73Glu
- TOPMed rs1361487879
- Missense
- Structural context available