D56A (p.Asp56Ala) variant of TOP1 (DNA topoisomerase 1)
D56A (p.Asp56Ala) 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.
D56A (p.Asp56Ala) variant details
- p.Asp56Ala
- TOPMed rs2033725364
- gnomAD rs2033725364
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -1.12
- CADD 27.60
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available