F190L (p.Phe190Leu) variant of TOP2A (DNA topoisomerase 2-alpha)
F190L (p.Phe190Leu) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F190L (p.Phe190Leu) variant details
- p.Phe190Leu
- NCI-TCGA Cosmic COSV7073
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.51
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available