D4V (p.Asp4Val) variant of TOP1 (DNA topoisomerase 1)
D4V (p.Asp4Val) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D4V (p.Asp4Val) variant details
- p.Asp4Val
- gnomAD 20-41029078-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.03
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available