H50R (p.His50Arg) variant of CEP290 (Centrosomal protein of 290 kDa)
H50R (p.His50Arg) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Joubert syndrome 5; Leber congenital amaurosis 10; Senior-Loken syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H50R (p.His50Arg) variant details
- p.His50Arg
- rs2138298302
- ClinGen CA385989846
- ClinVar RCV001997207
- ClinVar RCV005002709
- Uncertain significance
- Joubert syndrome 5; Leber congenital amaurosis 10; Senior-Loken syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- CADD 21.80
- PolyPhen-2 0.17
- SIFT 0.12
- ClinVar: Uncertain significance (Joubert syndrome 5; Leber congenital amaurosis 10; Senior-Loken)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)