A105V (p.Ala105Val) variant of CEP290 (Centrosomal protein of 290 kDa)
A105V (p.Ala105Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
A105V (p.Ala105Val) variant details
- p.Ala105Val
- cosmic curated COSV58348
- Ensembl rs2138217209
- Missense
- Structural context available