D20Y (p.Asp20Tyr) variant of TOP1 (DNA topoisomerase 1)
D20Y (p.Asp20Tyr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- gnomAD 20-41029455-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.16
- MetaLR 0.10
- MetaSVM -0.98
- CADD 36.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available