R284C (p.Arg284Cys) variant of AURKB (Aurora kinase B)
R284C (p.Arg284Cys) in AURKB (Aurora kinase B) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
R284C (p.Arg284Cys) variant details
- p.Arg284Cys
- cosmic curated COSV60246
- ESP rs140224531
- ExAC rs140224531
- TOPMed rs140224531
- Likely pathogenic
- NK-cell enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 26.00
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Likely pathogenic (NK-cell enteropathy)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available