V75I (p.Val75Ile) variant of TOP2A (DNA topoisomerase 2-alpha)
V75I (p.Val75Ile) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V75I (p.Val75Ile) variant details
- p.Val75Ile
- TOPMed rs2035391927
- gnomAD rs2035391927
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available