K29R (p.Lys29Arg) variant of TOP1 (DNA topoisomerase 1)
K29R (p.Lys29Arg) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- gnomAD 20-41061421-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.09
- CADD 23.90
- PolyPhen-2 0.90
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available