Q102R (p.Gln102Arg) variant of CEP290 (Centrosomal protein of 290 kDa)
Q102R (p.Gln102Arg) 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 Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q102R (p.Gln102Arg) variant details
- p.Gln102Arg
- rs2501714367
- ClinGen CA385987810
- ClinVar RCV003799331
- Uncertain significance
- Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.21
- CADD 22.20
- PolyPhen-2 0.11
- SIFT 0.18
- ClinVar: Uncertain significance (Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)