D152N (p.Asp152Asn) variant of TOP2A (DNA topoisomerase 2-alpha)
D152N (p.Asp152Asn) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D152N (p.Asp152Asn) variant details
- p.Asp152Asn
- TOPMed rs2035350271
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.13
- SIFT 0.39
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available