R44C (p.Arg44Cys) variant of AURKB (Aurora kinase B)
R44C (p.Arg44Cys) in AURKB (Aurora kinase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs529657077
- ClinGen CA8371615
- ClinVar RCV004144346
- 1000Genomes rs529657077
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)