K188R (p.Lys188Arg) variant of TOP2A (DNA topoisomerase 2-alpha)
K188R (p.Lys188Arg) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K188R (p.Lys188Arg) variant details
- p.Lys188Arg
- gnomAD rs1456737212
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.03
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available