E32G (p.Glu32Gly) variant of TOP1 (DNA topoisomerase 1)
E32G (p.Glu32Gly) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E32G (p.Glu32Gly) variant details
- p.Glu32Gly
- gnomAD 20-41061430-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- MetaLR 0.11
- MetaSVM -1.04
- CADD 27.90
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available