H49H (p.His49His) variant of TOP1 (DNA topoisomerase 1)
H49H (p.His49His) in TOP1 (DNA topoisomerase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H49H (p.His49His) variant details
- p.His49His
- rs1181161878
- gnomAD 20-41061482-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 8.08
- Population evidence available
- Structural context available
- Literature evidence available