Q45P (p.Gln45Pro) variant of CEP290 (Centrosomal protein of 290 kDa)
Q45P (p.Gln45Pro) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q45P (p.Gln45Pro) variant details
- p.Gln45Pro
- ExAC rs755840362
- gnomAD rs755840362
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.10
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available