A139V (p.Ala139Val) variant of TOP2A (DNA topoisomerase 2-alpha)
A139V (p.Ala139Val) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A139V (p.Ala139Val) variant details
- p.Ala139Val
- Ensembl rs2143687874
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.31
- CADD 21.60
- PolyPhen-2 0.15
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available