E95K (p.Glu95Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E95K (p.Glu95Lys) 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.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- cosmic curated COSV57126
- Ensembl rs865927858
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.32
- CADD 26.70
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available