D196G (p.Asp196Gly) variant of TOP2A (DNA topoisomerase 2-alpha)
D196G (p.Asp196Gly) 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.
D196G (p.Asp196Gly) variant details
- p.Asp196Gly
- gnomAD rs1271981703
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.17
- CADD 24.40
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available