H69Q (p.His69Gln) variant of TOP1 (DNA topoisomerase 1)
H69Q (p.His69Gln) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H69Q (p.His69Gln) variant details
- p.His69Gln
- ExAC rs755282743
- gnomAD rs755282743
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.10
- PolyPhen-2 0.60
- SIFT 0.04
- Population evidence available
- Structural context available