E74K (p.Glu74Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E74K (p.Glu74Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- TOPMed rs1243132131
- gnomAD rs1243132131
- Missense
- Structural context available