K5E (p.Lys5Glu) variant of AURKA (Aurora kinase A)
K5E (p.Lys5Glu) 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 0.33 / 1. The record also includes population frequency data and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- TOPMed rs1319672869
- gnomAD rs1319672869
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.14
- CADD 23.90
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00015)
- Structural context available