G69C (p.Gly69Cys) variant of TOP2A (DNA topoisomerase 2-alpha)
G69C (p.Gly69Cys) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G69C (p.Gly69Cys) variant details
- p.Gly69Cys
- ExAC rs772240354
- gnomAD rs772240354
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.38
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available