I5L (p.Ile5Leu) variant of CEP290 (Centrosomal protein of 290 kDa)
I5L (p.Ile5Leu) 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; Meckel-Gruber syndrome; Nephronophthisis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I5L (p.Ile5Leu) variant details
- p.Ile5Leu
- rs1046797710
- ClinGen CA241168931
- ClinVar RCV002588971
- ClinVar RCV004733516
- Uncertain significance
- Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.07
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)