E32K (p.Glu32Lys) variant of TOP1 (DNA topoisomerase 1)
E32K (p.Glu32Lys) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- gnomAD rs1311452696
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.18
- MetaLR 0.11
- MetaSVM -1.08
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available