R108Q (p.Arg108Gln) variant of CEP290 (Centrosomal protein of 290 kDa)
R108Q (p.Arg108Gln) 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 CEP290-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R108Q (p.Arg108Gln) variant details
- p.Arg108Gln
- rs758781417
- NCI-TCGA Cosmic COSV5835
- cosmic curated COSV58351
- ExAC rs758781417
- Uncertain significance
- CEP290-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.24
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.20
- ClinVar: Uncertain significance (CEP290-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available