L87* (p.Leu87Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
L87* (p.Leu87Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L87* (p.Leu87Ter) variant details
- p.Leu87Ter
- Ensembl rs2040499201
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 37.00
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available