R3L (p.Arg3Leu) variant of AURKA (Aurora kinase A)
R3L (p.Arg3Leu) in AURKA (Aurora kinase A) is a missense change. Clinical records from ClinVar, EBI, 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 0.13 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- rs745894289
- ClinGen CA9917548
- ClinVar RCV004421270
- ExAC rs745894289
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.04
- CADD 22.40
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.013)
- Structural context available