E125K (p.Glu125Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E125K (p.Glu125Lys) 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 Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E125K (p.Glu125Lys) variant details
- p.Glu125Lys
- rs2040371663
- ClinGen CA385987454
- ClinVar RCV003069739
- ClinVar RCV004733575
- Uncertain significance
- Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.26
- CADD 25.50
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)