G3V (p.Gly3Val) variant of TOP1 (DNA topoisomerase 1)
G3V (p.Gly3Val) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- gnomAD 20-41029075-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -1.01
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available