T76I (p.Thr76Ile) variant of TOP2A (DNA topoisomerase 2-alpha)
T76I (p.Thr76Ile) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T76I (p.Thr76Ile) variant details
- p.Thr76Ile
- ESP rs373052063
- ExAC rs373052063
- TOPMed rs373052063
- gnomAD rs373052063
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.39
- CADD 26.10
- PolyPhen-2 0.50
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available