D4Y (p.Asp4Tyr) variant of TOP1 (DNA topoisomerase 1)
D4Y (p.Asp4Tyr) 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.
D4Y (p.Asp4Tyr) variant details
- p.Asp4Tyr
- gnomAD 20-41029077-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -1.00
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available