S104L (p.Ser104Leu) variant of AURKA (Aurora kinase A)
S104L (p.Ser104Leu) in AURKA (Aurora kinase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of AURKA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S104L (p.Ser104Leu) variant details
- p.Ser104Leu
- rs2230743
- ClinGen CA9917466
- cosmic curated COSV57168
- ClinVar RCV003911552
- Likely benign
- AURKA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.08
- CADD 17.30
- PolyPhen-2 0.15
- SIFT 0.12
- ClinVar: Likely benign (AURKA-related disorder)
- EBI: Likely benign (in dbSNP:rs2230743)
- UniProt: Likely benign (in dbSNP:rs2230743)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available