L51F (p.Leu51Phe) variant of CEP290 (Centrosomal protein of 290 kDa)
L51F (p.Leu51Phe) 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 Meckel-Gruber syndrome; Joubert syndrome; Nephronophthisis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L51F (p.Leu51Phe) variant details
- p.Leu51Phe
- rs1264332374
- ClinGen CA385989834
- ClinVar RCV000636993
- ClinVar RCV002507078
- Uncertain significance
- Meckel-Gruber syndrome; Joubert syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.40
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Meckel-Gruber syndrome; Joubert syndrome; Nephronophthisis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)