Q86K (p.Gln86Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
Q86K (p.Gln86Lys) 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 Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q86K (p.Gln86Lys) variant details
- p.Gln86Lys
- rs1004064531
- ClinGen CA241166995
- ClinVar RCV001236115
- TOPMed rs1004064531
- Uncertain significance
- Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.10
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 6.2e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)