E84K (p.Glu84Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E84K (p.Glu84Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E84K (p.Glu84Lys) variant details
- p.Glu84Lys
- Ensembl rs2040519662
- Uncertain significance
- Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.33
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Leber congenital amaurosis)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available