V107L (p.Val107Leu) variant of TOP2A (DNA topoisomerase 2-alpha)
V107L (p.Val107Leu) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from ClinVar 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 0.32 / 1. The record also includes population frequency data and structural context.
V107L (p.Val107Leu) variant details
- p.Val107Leu
- TOPMed rs1335490488
- gnomAD rs1335490488
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available