Q45H (p.Gln45His) variant of CEP290 (Centrosomal protein of 290 kDa)
Q45H (p.Gln45His) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q45H (p.Gln45His) variant details
- p.Gln45His
- rs2138298764
- ClinGen CA385989902
- ClinVar RCV001992390
- Ensembl rs2138298764
- Uncertain significance
- Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.14
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.05
- 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)