L124* (p.Leu124Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
L124* (p.Leu124Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L124* (p.Leu124Ter) variant details
- p.Leu124Ter
- TOPMed rs1311709485
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available