M189T (p.Met189Thr) variant of TOP2A (DNA topoisomerase 2-alpha)
M189T (p.Met189Thr) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
M189T (p.Met189Thr) variant details
- p.Met189Thr
- TOPMed rs1161521897
- gnomAD rs1161521897
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.06
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available