M59V (p.Met59Val) variant of CEP290 (Centrosomal protein of 290 kDa)
M59V (p.Met59Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M59V (p.Met59Val) variant details
- p.Met59Val
- TOPMed rs1272110007
- gnomAD rs1272110007
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.30
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available