I116V (p.Ile116Val) variant of TOP2A (DNA topoisomerase 2-alpha)
I116V (p.Ile116Val) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I116V (p.Ile116Val) variant details
- p.Ile116Val
- TOPMed rs1371166899
- gnomAD rs1371166899
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.12
- CADD 20.80
- PolyPhen-2 0.11
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available