M100V (p.Met100Val) variant of CEP290 (Centrosomal protein of 290 kDa)
M100V (p.Met100Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
M100V (p.Met100Val) variant details
- p.Met100Val
- Ensembl rs2040376372
- Missense
- Structural context available