R243W (p.Arg243Trp) variant of THRB (Thyroid hormone receptor beta)
R243W (p.Arg243Trp) 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; Hyperthyroidism; Thyroid hormone resistance, generalized, autosoma. 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.
R243W (p.Arg243Trp) variant details
- p.Arg243Trp
- rs121918707
- ClinGen CA122511
- cosmic curated COSV54982
- ClinVar RCV000013395
- Pathogenic
- not provided; Hyperthyroidism; Thyroid hormone resistance, generalized, autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.95
- MetaLR 0.91
- MetaSVM 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.17
- ClinVar: Pathogenic (not provided; Hyperthyroidism; Thyroid hormone resistance, gener)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Population evidence available
- Structural context available
- Cited in: New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized… (PMID 8664910)
- Cited in: T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone… (PMID 10660344)