S47C (p.Ser47Cys) variant of TOP1 (DNA topoisomerase 1)
S47C (p.Ser47Cys) 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 and structural context.
S47C (p.Ser47Cys) variant details
- p.Ser47Cys
- gnomAD rs1196598053
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.15
- CADD 22.80
- PolyPhen-2 0.43
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available