Q126K (p.Gln126Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
Q126K (p.Gln126Lys) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q126K (p.Gln126Lys) variant details
- p.Gln126Lys
- rs1222421581
- ClinGen CA385987437
- ClinVar RCV002913871
- ClinVar RCV004733542
- Uncertain significance
- Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.18
- CADD 23.50
- PolyPhen-2 0.47
- SIFT 0.05
- ClinVar: Uncertain significance (Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)