H50Y (p.His50Tyr) variant of CEP290 (Centrosomal protein of 290 kDa)
H50Y (p.His50Tyr) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CEP290-related ciliopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H50Y (p.His50Tyr) variant details
- p.His50Tyr
- rs878853363
- ClinGen CA10581687
- ClinVar RCV000225409
- ClinVar RCV001854802
- Pathogenic
- CEP290-related ciliopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.38
- CADD 25.90
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Pathogenic (CEP290-related ciliopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)