E79Q (p.Glu79Gln) variant of CEP290 (Centrosomal protein of 290 kDa)
E79Q (p.Glu79Gln) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
E79Q (p.Glu79Gln) variant details
- p.Glu79Gln
- Ensembl rs2040520314
- Missense
- Structural context available