E130G (p.Glu130Gly) variant of CEP290 (Centrosomal protein of 290 kDa)
E130G (p.Glu130Gly) 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; Meckel-Gruber syndrome; Nephronophthisis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E130G (p.Glu130Gly) variant details
- p.Glu130Gly
- rs2501709322
- ClinGen CA385987346
- ClinVar RCV002727123
- Uncertain significance
- Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.37
- CADD 26.50
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)