R3Q (p.Arg3Gln) variant of AURKA (Aurora kinase A)
R3Q (p.Arg3Gln) in AURKA (Aurora kinase A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- cosmic curated COSV53860
- ExAC rs745894289
- TOPMed rs745894289
- gnomAD rs745894289
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.08
- CADD 18.30
- PolyPhen-2 0.02
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available