P50L (p.Pro50Leu) variant of AURKA (Aurora kinase A)
P50L (p.Pro50Leu) in AURKA (Aurora kinase A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs34572020
- UniProt VAR 041127
- 1000Genomes rs34572020
- ESP rs34572020
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.17
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.06
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)