R429Q (p.Arg429Gln) variant of THRB (Thyroid hormone receptor beta)
R429Q (p.Arg429Gln) 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; Hyper. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R429Q (p.Arg429Gln) variant details
- p.Arg429Gln
- rs1553609210
- ClinGen CA351886655
- cosmic curated COSV54980
- ClinVar RCV000660865
- Pathogenic/Likely pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal dominant; Hyper
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 27.50
- ClinVar: Pathogenic/Likely pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Pathogenic (in PRTH)
- UniProt: Pathogenic (in PRTH)
- Population evidence available
- Structural context available
- Cited in: A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition. (PMID 7528740)
- Cited in: An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor… (PMID 8381821)