A14T (p.Ala14Thr) variant of TOP1 (DNA topoisomerase 1)
A14T (p.Ala14Thr) in TOP1 (DNA topoisomerase 1) 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, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD 20-41029437-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.07
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available