G347E (p.Gly347Glu) variant of THRB (Thyroid hormone receptor beta)
G347E (p.Gly347Glu) 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.
G347E (p.Gly347Glu) variant details
- p.Gly347Glu
- rs28999971
- ClinGen CA122475
- ClinVar RCV000013373
- UniProt VAR 004646
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.28
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid… (PMID 1661299)
- Cited in: Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from… (PMID 8013151)