K140R (p.Lys140Arg) variant of CEP290 (Centrosomal protein of 290 kDa)
K140R (p.Lys140Arg) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K140R (p.Lys140Arg) variant details
- p.Lys140Arg
- rs750776051
- ClinGen CA6712813
- ClinVar RCV002021620
- ExAC rs750776051
- Uncertain significance
- Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.13
- ClinVar: Uncertain significance (Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)