case_images: PMC9742467_01
case_images: Polyphen2 prediction report & Prediction of protein conservation.
case_images: fendo-13-1020880-g001.jpg
case_images: PMC9742467_01_fendo-13-1020880-g001.jpg
case_images: f1
case_images: REVEL, Polyphen2, MutationTaster, and other computer prediction software predicted a deleterious variant (REVEL score: 0.959) ( Figure 1 ).Meanwhile, the variant has been included in the ClinVar database as a pathogenic/probably pathogenic variant (Variation ID: 16907).