R283C (p.Arg283Cys) variant of AURKB (Aurora kinase B)
R283C (p.Arg283Cys) in AURKB (Aurora kinase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of NK-cell enteropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R283C (p.Arg283Cys) variant details
- p.Arg283Cys
- rs1597343914
- ClinGen CA397985833
- NCI-TCGA Cosmic COSV6024
- cosmic curated COSV60245
- Likely pathogenic
- NK-cell enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 24.20
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Likely pathogenic (NK-cell enteropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available