L450H (p.Leu450His) variant of THRB (Thyroid hormone receptor beta)
L450H (p.Leu450His) 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 0.74 / 1. The record also includes published literature and structural context.
L450H (p.Leu450His) variant details
- p.Leu450His
- rs121918701
- ClinGen CA122479
- ClinVar RCV000013375
- Ensembl rs121918701
- Pathogenic
- Generalized resistance to thyroid hormone
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 0.92
- MetaLR 0.84
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.26
- ClinVar: Pathogenic (Generalized resistance to thyroid hormone)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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: Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from… (PMID 8013151)