D43E (p.Asp43Glu) variant of TOP1 (DNA topoisomerase 1)
D43E (p.Asp43Glu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- Ensembl rs2145927007
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.20
- MetaLR 0.04
- MetaSVM -1.05
- CADD 17.90
- PolyPhen-2 0.94
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available