R1752W (p.Arg1752Trp) variant of CEP290 (Centrosomal protein of 290 kDa)
R1752W (p.Arg1752Trp) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R1752W (p.Arg1752Trp) variant details
- p.Arg1752Trp
- rs748471942
- ClinGen CA6711749
- ClinVar RCV001074245
- ClinVar RCV001234472
- Likely pathogenic
- CEP290-related ciliopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (CEP290-related ciliopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)