W7C (p.Trp7Cys) variant of CEP290 (Centrosomal protein of 290 kDa)
W7C (p.Trp7Cys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CEP290-related ciliopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
W7C (p.Trp7Cys) variant details
- p.Trp7Cys
- rs62635288
- ClinGen CA227962
- ClinVar RCV000001398
- ClinVar RCV000086283
- Likely pathogenic
- CEP290-related ciliopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.74
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (CEP290-related ciliopathy)
- EBI: Pathogenic (in JBTS5 and SLSN6)
- UniProt: Pathogenic (in JBTS5 and SLSN6)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. (PMID 16682970)
- Cited in: Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of… (PMID 20683928)