S52S (p.Ser52Ser) variant of TOP1 (DNA topoisomerase 1)
S52S (p.Ser52Ser) in TOP1 (DNA topoisomerase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S52S (p.Ser52Ser) variant details
- p.Ser52Ser
- gnomAD 20-41076171-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available