E46K (p.Glu46Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E46K (p.Glu46Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs1018550969
- ClinGen CA241168610
- ClinVar RCV002031068
- TOPMed rs1018550969
- Uncertain significance
- Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.41
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)