R243Q (p.Arg243Gln) variant of THRB (Thyroid hormone receptor beta)
R243Q (p.Arg243Gln) 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 recessive; Sele. 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.
R243Q (p.Arg243Gln) variant details
- p.Arg243Gln
- rs121918706
- ClinGen CA122509
- cosmic curated COSV54979
- ClinVar RCV000013394
- Pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal recessive; Sele
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.11
- ClinVar: Pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Population evidence available
- Structural context available
- Cited in: A novel point mutation (R243Q) in exon 7 of the c-erbA beta thyroid hormone receptor gene in a family with resistance… (PMID 8563471)
- Cited in: Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked… (PMID 9141558)