K29E (p.Lys29Glu) variant of TOP1 (DNA topoisomerase 1)
K29E (p.Lys29Glu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- gnomAD 20-41061420-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.08
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available