I12M (p.Ile12Met) variant of TOP1 (DNA topoisomerase 1)
I12M (p.Ile12Met) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I12M (p.Ile12Met) variant details
- p.Ile12Met
- ExAC rs772450250
- TOPMed rs772450250
- gnomAD rs772450250
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.20
- MetaLR 0.10
- MetaSVM -1.05
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.19
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available