H38R (p.His38Arg) variant of TOP1 (DNA topoisomerase 1)
H38R (p.His38Arg) 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.
H38R (p.His38Arg) variant details
- p.His38Arg
- gnomAD 20-41061448-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.13
- CADD 23.60
- PolyPhen-2 0.84
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available