Q45R (p.Gln45Arg) variant of CEP290 (Centrosomal protein of 290 kDa)
Q45R (p.Gln45Arg) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- ExAC rs755840362
- gnomAD rs755840362
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.12
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.14
- Population evidence available
- Structural context available