R20C (p.Arg20Cys) variant of CEP290 (Centrosomal protein of 290 kDa)
R20C (p.Arg20Cys) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs779867970
- ClinGen CA6712926
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57124
- Uncertain significance
- Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.31
- CADD 28.00
- PolyPhen-2 0.80
- SIFT 0.03
- ClinVar: Uncertain significance (Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)