E37V (p.Glu37Val) variant of TOP1 (DNA topoisomerase 1)
E37V (p.Glu37Val) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E37V (p.Glu37Val) variant details
- p.Glu37Val
- TOPMed rs1363354119
- gnomAD rs1363354119
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.13
- CADD 23.50
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available