K90* (p.Lys90Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
K90* (p.Lys90Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K90* (p.Lys90Ter) variant details
- p.Lys90Ter
- rs1057517886
- ClinGen CA16042812
- ClinVar RCV000413097
- Ensembl rs1057517886
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available