I12I (p.Ile12Ile) variant of TOP1 (DNA topoisomerase 1)
I12I (p.Ile12Ile) in TOP1 (DNA topoisomerase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I12I (p.Ile12Ile) variant details
- p.Ile12Ile
- rs772450250
- gnomAD 20-41029433-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 21.70
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available