L131F (p.Leu131Phe) variant of CEP290 (Centrosomal protein of 290 kDa)
L131F (p.Leu131Phe) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L131F (p.Leu131Phe) variant details
- p.Leu131Phe
- ExAC rs780621500
- TOPMed rs780621500
- gnomAD rs780621500
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.33
- CADD 21.60
- PolyPhen-2 0.95
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available