E71K (p.Glu71Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E71K (p.Glu71Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- TOPMed rs2040522225
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.84
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available