M189I (p.Met189Ile) variant of TOP2A (DNA topoisomerase 2-alpha)
M189I (p.Met189Ile) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M189I (p.Met189Ile) variant details
- p.Met189Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available