R151L (p.Arg151Leu) variant of CEP290 (Centrosomal protein of 290 kDa)
R151L (p.Arg151Leu) 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 0.49 / 1. The record also includes population frequency data and structural context.
R151L (p.Arg151Leu) variant details
- p.Arg151Leu
- cosmic curated COSV58355
- ExAC rs753374614
- TOPMed rs753374614
- gnomAD rs753374614
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.31
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available