Y72C (p.Tyr72Cys) variant of TOP2A (DNA topoisomerase 2-alpha)
Y72C (p.Tyr72Cys) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y72C (p.Tyr72Cys) variant details
- p.Tyr72Cys
- TOPMed rs1019417784
- gnomAD rs1019417784
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available