I57V (p.Ile57Val) variant of AURKA (Aurora kinase A)
I57V (p.Ile57Val) in AURKA (Aurora kinase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of AURKA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
I57V (p.Ile57Val) variant details
- p.Ile57Val
- rs1047972
- ClinGen CA9917486
- cosmic curated COSV10045
- ClinVar RCV003979654
- Benign
- AURKA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0512
- REVEL 0.03
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (AURKA-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 1)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Two functional coding single nucleotide polymorphisms in STK15 (Aurora-A) coordinately increase esophageal cancer risk. (PMID 15867347)