Q144H (p.Gln144His) variant of TOP2A (DNA topoisomerase 2-alpha)
Q144H (p.Gln144His) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q144H (p.Gln144His) variant details
- p.Gln144His
- Ensembl rs2143687820
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.16
- CADD 7.42
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available