S74P (p.Ser74Pro) variant of TOP1 (DNA topoisomerase 1)
S74P (p.Ser74Pro) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S74P (p.Ser74Pro) variant details
- p.Ser74Pro
- TOPMed rs2033725844
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.15
- CADD 24.30
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available