C49R (p.Cys49Arg) variant of AURKA (Aurora kinase A)
C49R (p.Cys49Arg) 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 0.34 / 1. The record also includes population frequency data and structural context.
C49R (p.Cys49Arg) variant details
- p.Cys49Arg
- ExAC rs781474634
- gnomAD rs781474634
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available