Q340H (p.Gln340His) variant of THRB (Thyroid hormone receptor beta)
Q340H (p.Gln340His) 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 Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
Q340H (p.Gln340His) variant details
- p.Gln340His
- rs121918688
- ClinGen CA122454
- ClinVar RCV000013363
- UniProt VAR 004641
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.94
- MetaLR 0.90
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.33
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is… (PMID 1846005)
- Cited in: Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from… (PMID 8013151)