D9Y (p.Asp9Tyr) variant of TOP1 (DNA topoisomerase 1)
D9Y (p.Asp9Tyr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- gnomAD 20-41029092-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.22
- MetaLR 0.10
- MetaSVM -1.00
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available