I12V (p.Ile12Val) variant of TOP1 (DNA topoisomerase 1)
I12V (p.Ile12Val) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- TOPMed rs1035670825
- gnomAD rs1035670825
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.14
- MetaLR 0.05
- MetaSVM -1.04
- CADD 22.30
- PolyPhen-2 0.46
- SIFT 0.63
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available