C49G (p.Cys49Gly) variant of AURKA (Aurora kinase A)
C49G (p.Cys49Gly) 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 0.33 / 1. The record also includes population frequency data and structural context.
C49G (p.Cys49Gly) variant details
- p.Cys49Gly
- ExAC rs781474634
- gnomAD rs781474634
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.88
- SIFT 0.45
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available