L70F (p.Leu70Phe) variant of CEP290 (Centrosomal protein of 290 kDa)
L70F (p.Leu70Phe) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. 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.
L70F (p.Leu70Phe) variant details
- p.Leu70Phe
- Ensembl rs2138266557
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.27
- CADD 23.00
- PolyPhen-2 0.77
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available