I125V (p.Ile125Val) variant of TOP2A (DNA topoisomerase 2-alpha)
I125V (p.Ile125Val) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I125V (p.Ile125Val) variant details
- p.Ile125Val
- TOPMed rs967876210
- gnomAD rs967876210
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.19
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available