K40E (p.Lys40Glu) variant of TOP1 (DNA topoisomerase 1)
K40E (p.Lys40Glu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K40E (p.Lys40Glu) variant details
- p.Lys40Glu
- gnomAD rs1348183473
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.24
- MetaLR 0.10
- MetaSVM -1.02
- CADD 27.00
- PolyPhen-2 0.90
- SIFT 0.06
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available