S47F (p.Ser47Phe) variant of TOP1 (DNA topoisomerase 1)
S47F (p.Ser47Phe) 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.
S47F (p.Ser47Phe) variant details
- p.Ser47Phe
- gnomAD 20-41061475-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.11
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.46
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available