R1926P (p.Arg1926Pro) variant of CEP290 (Centrosomal protein of 290 kDa)
R1926P (p.Arg1926Pro) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R1926P (p.Arg1926Pro) variant details
- p.Arg1926Pro
- rs778030031
- ClinGen CA241150716
- ClinVar RCV000815985
- ClinVar RCV000988881
- Pathogenic
- CEP290-related ciliopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.35
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (CEP290-related ciliopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)