I49M (p.Ile49Met) variant of CEP290 (Centrosomal protein of 290 kDa)
I49M (p.Ile49Met) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I49M (p.Ile49Met) variant details
- p.Ile49Met
- rs2501850748
- ClinGen CA385989858
- ClinVar RCV002675547
- Uncertain significance
- Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.07
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.02
- 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)