R111W (p.Arg111Trp) variant of CEP290 (Centrosomal protein of 290 kDa)
R111W (p.Arg111Trp) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R111W (p.Arg111Trp) variant details
- p.Arg111Trp
- rs1051440600
- ClinGen CA241165275
- ClinVar RCV001239679
- ClinVar RCV001828930
- Uncertain significance
- Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.49
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.01
- 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 6.6e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)