E180V (p.Glu180Val) variant of TOP2A (DNA topoisomerase 2-alpha)
E180V (p.Glu180Val) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E180V (p.Glu180Val) variant details
- p.Glu180Val
- 1000Genomes rs575665799
- ExAC rs575665799
- gnomAD rs575665799
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.48
- CADD 29.30
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available