K20Q (p.Lys20Gln) variant of TOP2A (DNA topoisomerase 2-alpha)
K20Q (p.Lys20Gln) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K20Q (p.Lys20Gln) variant details
- p.Lys20Gln
- ESP rs369852373
- ExAC rs369852373
- TOPMed rs369852373
- gnomAD rs369852373
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available