K143I (p.Lys143Ile) variant of CEP290 (Centrosomal protein of 290 kDa)
K143I (p.Lys143Ile) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
K143I (p.Lys143Ile) variant details
- p.Lys143Ile
- Ensembl rs910085555
- Missense
- Structural context available