E23V (p.Glu23Val) variant of CEP290 (Centrosomal protein of 290 kDa)
E23V (p.Glu23Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E23V (p.Glu23Val) variant details
- p.Glu23Val
- ExAC rs757919599
- gnomAD rs757919599
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.36
- CADD 32.00
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00075)
- Structural context available