Variant prioritization considerations
| Consideration . | Resource examples . |
|---|---|
| How common is the variant in a general population? | gnomAD |
| Has the variant been described as pathogenic? | ClinVar, CBioPortal, and COSMIC |
| Is there in silico evidence that the variant is pathogenic? | MutPhred2, SIFT, MutationTaster, AlphaMissense, Polyphen2, SpiceAI, CADD |
| What are known genetic mechanisms of disease in the gene? | OMIM, IUIS (for GEI) |
| Consideration . | Resource examples . |
|---|---|
| How common is the variant in a general population? | gnomAD |
| Has the variant been described as pathogenic? | ClinVar, CBioPortal, and COSMIC |
| Is there in silico evidence that the variant is pathogenic? | MutPhred2, SIFT, MutationTaster, AlphaMissense, Polyphen2, SpiceAI, CADD |
| What are known genetic mechanisms of disease in the gene? | OMIM, IUIS (for GEI) |
References: Adzhubei et al., 2013; Broad Institute, 2025; Cerami et al., 2012; Cheng et al., 2023; Poli et al., 2025; Jaganathan et al., 2019; Landrum et al., 2014; McKusick-Nathans Institute of Genetic Medicine, 2025; Ng and Henikoff, 2001; Pejaver et al., 2020; Rentzsch et al., 2019; Steinhaus et al., 2021; Tate et al., 2019.