R114C (p.Arg114Cys) variant of CEP290 (Centrosomal protein of 290 kDa)
R114C (p.Arg114Cys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R114C (p.Arg114Cys) variant details
- p.Arg114Cys
- rs776101043
- NCI-TCGA Cosmic COSV5834
- cosmic curated COSV58349
- ExAC rs776101043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.47
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available