S57T (p.Ser57Thr) variant of TOP1 (DNA topoisomerase 1)
S57T (p.Ser57Thr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S57T (p.Ser57Thr) variant details
- p.Ser57Thr
- gnomAD 20-41076184-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -0.95
- CADD 25.30
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available