T76A (p.Thr76Ala) variant of TOP2A (DNA topoisomerase 2-alpha)
T76A (p.Thr76Ala) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T76A (p.Thr76Ala) variant details
- p.Thr76Ala
- TOPMed rs1490438473
- gnomAD rs1490438473
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4e-05)
- Structural context available