N7K (p.Asn7Lys) variant of AURKA (Aurora kinase A)
N7K (p.Asn7Lys) in AURKA (Aurora kinase A) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N7K (p.Asn7Lys) variant details
- p.Asn7Lys
- 1000Genomes rs142322743
- ESP rs142322743
- ExAC rs142322743
- TOPMed rs142322743
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.11
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available