F459C (p.Phe459Cys) variant of THRB (Thyroid hormone receptor beta)
F459C (p.Phe459Cys) 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 Generalized resistance to thyroid hormone. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
F459C (p.Phe459Cys) variant details
- p.Phe459Cys
- rs121918702
- ClinGen CA122499
- ClinVar RCV000013389
- UniProt VAR 059049
- Pathogenic
- Generalized resistance to thyroid hormone
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Generalized resistance to thyroid hormone)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13… (PMID 1400869)
- Cited in: Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense… (PMID 19268523)