S47S (p.Ser47Ser) variant of TOP1 (DNA topoisomerase 1)
S47S (p.Ser47Ser) in TOP1 (DNA topoisomerase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S47S (p.Ser47Ser) variant details
- p.Ser47Ser
- gnomAD 20-41061476-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 8.59
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available