L51I (p.Leu51Ile) variant of CEP290 (Centrosomal protein of 290 kDa)
L51I (p.Leu51Ile) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L51I (p.Leu51Ile) variant details
- p.Leu51Ile
- TOPMed rs1264332374
- gnomAD rs1264332374
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.27
- CADD 25.80
- PolyPhen-2 0.74
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available