Predicting Pathogenicity of <i>TSHR</i> Missense Variants of Uncertain Significance: An Integrative Computational Study.

ABSTRACT: Pathogenic variants in the thyroid-stimulating hormone receptor gene (TSHR) contribute to a wide spectrum of thyroid dysfunctions, ranging from congenital hypothyroidism to thyrotropin resistance. With the advancement of bioinformatics algorithms for variant effect prediction, assessing the pathogenic potential of variants has become increasingly important. This study aimed to investigate the pathogenic effects of TSHR variants classified as variants of uncertain significance (VUSs) in the gnomAD v4.1.0 database. TSHR variants listed in gnomAD v4.1.0 were retrieved and filtered to select missense VUSs based on ClinVar classifications. Multiple bioinformatics tools were used to assess the secondary and three-dimensional structures of the TSHR, as well as protein

SUBMITTER: Hajali TA 

PROVIDER: S-EPMC12898700 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature