K127Q (p.Lys127Gln) variant of CEP290 (Centrosomal protein of 290 kDa)
K127Q (p.Lys127Gln) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K127Q (p.Lys127Gln) variant details
- p.Lys127Gln
- rs781101346
- ClinGen CA6712818
- ClinVar RCV000732950
- ClinVar RCV002535303
- Uncertain significance
- Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.28
- CADD 25.40
- PolyPhen-2 0.89
- SIFT 0.05
- ClinVar: Uncertain significance (Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)