R34L (p.Arg34Leu) variant of TOP1 (DNA topoisomerase 1)
R34L (p.Arg34Leu) 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.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- gnomAD 20-41061436-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.12
- CADD 24.50
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available