R129G (p.Arg129Gly) variant of CEP290 (Centrosomal protein of 290 kDa)
R129G (p.Arg129Gly) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R129G (p.Arg129Gly) variant details
- p.Arg129Gly
- rs2138214415
- ClinGen CA385987377
- ClinVar RCV002015329
- Ensembl rs2138214415
- Uncertain significance
- Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.39
- CADD 23.60
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome)
- 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)