L98P (p.Leu98Pro) variant of CEP290 (Centrosomal protein of 290 kDa)
L98P (p.Leu98Pro) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L98P (p.Leu98Pro) variant details
- p.Leu98Pro
- TOPMed rs2040497062
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.45
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available