H49N (p.His49Asn) variant of TOP1 (DNA topoisomerase 1)
H49N (p.His49Asn) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H49N (p.His49Asn) variant details
- p.His49Asn
- gnomAD 20-41061480-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.13
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available