M189K (p.Met189Lys) variant of TOP2A (DNA topoisomerase 2-alpha)
M189K (p.Met189Lys) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
M189K (p.Met189Lys) variant details
- p.Met189Lys
- TOPMed rs1161521897
- gnomAD rs1161521897
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.09
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available