Q72R (p.Gln72Arg) variant of AURKA (Aurora kinase A)
Q72R (p.Gln72Arg) in AURKA (Aurora kinase A) is a missense change. Clinical records from ClinVar 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 0.26 / 1. The record also includes population frequency data and structural context.
Q72R (p.Gln72Arg) variant details
- p.Gln72Arg
- ExAC rs568356248
- TOPMed rs568356248
- gnomAD rs568356248
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.04
- CADD 7.43
- PolyPhen-2 0.21
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available