E121G (p.Glu121Gly) variant of CEP290 (Centrosomal protein of 290 kDa)
E121G (p.Glu121Gly) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E121G (p.Glu121Gly) variant details
- p.Glu121Gly
- rs2040372439
- ClinGen CA385987518
- ClinVar RCV001969992
- TOPMed rs2040372439
- Uncertain significance
- Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.38
- AlphaMissense 0.25
- MetaLR 0.69
- MetaSVM 0.20
- CADD 25.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)