K443E (p.Lys443Glu) variant of THRB (Thyroid hormone receptor beta)
K443E (p.Lys443Glu) 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 0.83 / 1. The record also includes published literature and structural context.
K443E (p.Lys443Glu) variant details
- p.Lys443Glu
- rs121918692
- ClinGen CA122483
- ClinVar RCV000013378
- UniProt VAR 004651
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. (PMID 1587388)
- Cited in: Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from… (PMID 8013151)