R316H (p.Arg316His) variant of THRB (Thyroid hormone receptor beta)
R316H (p.Arg316His) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R316H (p.Arg316His) variant details
- p.Arg316His
- rs121918695
- ClinGen CA122491
- ClinVar RCV000013382
- ClinVar RCV001844011
- Pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Pathogenic (in PRTH)
- UniProt: Pathogenic (in PRTH)
- Population evidence available
- Structural context available
- Cited in: Two resistance to thyroid hormone mutants with impaired hormone binding. (PMID 12554782)
- Cited in: Bromocriptine and Triac therapy for hyperthyroidism due to pituitary resistance to thyroid hormone. (PMID 1400873)