M195I (p.Met195Ile) variant of TOP2A (DNA topoisomerase 2-alpha)
M195I (p.Met195Ile) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M195I (p.Met195Ile) variant details
- p.Met195Ile
- gnomAD rs1305742480
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.06
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available