D26E (p.Asp26Glu) variant of TOP1 (DNA topoisomerase 1)
D26E (p.Asp26Glu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D26E (p.Asp26Glu) variant details
- p.Asp26Glu
- gnomAD 20-41061413-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.08
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available