Q103* (p.Gln103Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
Q103* (p.Gln103Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q103* (p.Gln103Ter) variant details
- p.Gln103Ter
- rs752144368
- ClinGen CA6712832
- ClinVar RCV001386072
- ClinVar RCV003469718
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)