E121A (p.Glu121Ala) variant of CEP290 (Centrosomal protein of 290 kDa)
E121A (p.Glu121Ala) 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 0.60 / 1. The record also includes published literature and structural context.
E121A (p.Glu121Ala) variant details
- p.Glu121Ala
- rs2040372439
- ClinGen CA385987521
- ClinVar RCV001340171
- ClinVar RCV002486369
- Uncertain significance
- Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.25
- MetaLR 0.69
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.73
- ClinVar: Uncertain significance (Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)