R53S (p.Arg53Ser) variant of CEP290 (Centrosomal protein of 290 kDa)
R53S (p.Arg53Ser) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
R53S (p.Arg53Ser) variant details
- p.Arg53Ser
- Ensembl rs2040620232
- Missense
- Structural context available