M135I (p.Met135Ile) variant of TOP2A (DNA topoisomerase 2-alpha)
M135I (p.Met135Ile) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
M135I (p.Met135Ile) variant details
- p.Met135Ile
- TOPMed rs919128157
- gnomAD rs919128157
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.08
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available