L131W (p.Leu131Trp) variant of CEP290 (Centrosomal protein of 290 kDa)
L131W (p.Leu131Trp) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L131W (p.Leu131Trp) variant details
- p.Leu131Trp
- TOPMed rs1024695999
- gnomAD rs1024695999
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.44
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available