R338W (p.Arg338Trp) variant of THRB (Thyroid hormone receptor beta)
R338W (p.Arg338Trp) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R338W (p.Arg338Trp) variant details
- p.Arg338Trp
- rs121918697
- ClinGen CA122495
- NCI-TCGA Cosmic COSV5498
- cosmic curated COSV54980
- Pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal recessive; Sele
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- 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: Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of… (PMID 1159077)
- Cited in: Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. (PMID 16804041)