R383H (p.Arg383His) variant of THRB (Thyroid hormone receptor beta)
R383H (p.Arg383His) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R383H (p.Arg383His) variant details
- p.Arg383His
- rs121918708
- ClinGen CA122513
- cosmic curated COSV54981
- ClinVar RCV000013396
- Pathogenic/Likely pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone. (PMID 10487671)
- Cited in: A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release… (PMID 9605924)