A14E (p.Ala14Glu) variant of TOP1 (DNA topoisomerase 1)
A14E (p.Ala14Glu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- gnomAD 20-41029438-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.03
- CADD 21.80
- PolyPhen-2 0.19
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available