K34Q (p.Lys34Gln) variant of CEP290 (Centrosomal protein of 290 kDa)
K34Q (p.Lys34Gln) 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 0.53 / 1. The record also includes published literature and structural context.
K34Q (p.Lys34Gln) variant details
- p.Lys34Gln
- rs2040637392
- ClinGen CA385990090
- ClinVar RCV002297344
- TOPMed rs2040637392
- Uncertain significance
- Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.12
- MetaLR 0.63
- MetaSVM 0.24
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.30
- ClinVar: Uncertain significance (Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)