D152E (p.Asp152Glu) variant of TOP2A (DNA topoisomerase 2-alpha)
D152E (p.Asp152Glu) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D152E (p.Asp152Glu) variant details
- p.Asp152Glu
- TOPMed rs1290529154
- gnomAD rs1290529154
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available