I88S (p.Ile88Ser) variant of TOP2A (DNA topoisomerase 2-alpha)
I88S (p.Ile88Ser) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
I88S (p.Ile88Ser) variant details
- p.Ile88Ser
- TOPMed rs796052143
- gnomAD rs796052143
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.77
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available