S33F (p.Ser33Phe) variant of CEP290 (Centrosomal protein of 290 kDa)
S33F (p.Ser33Phe) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S33F (p.Ser33Phe) variant details
- p.Ser33Phe
- ExAC rs751721358
- TOPMed rs751721358
- gnomAD rs751721358
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.29
- CADD 24.40
- PolyPhen-2 0.58
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available