L138V (p.Leu138Val) variant of CEP290 (Centrosomal protein of 290 kDa)
L138V (p.Leu138Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
L138V (p.Leu138Val) variant details
- p.Leu138Val
- Ensembl rs1592693326
- Missense
- Structural context available