P453L (p.Pro453Leu) variant of THRB (Thyroid hormone receptor beta)
P453L (p.Pro453Leu) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P453L (p.Pro453Leu) variant details
- p.Pro453Leu
- rs121918687
- ClinGen CA351886497
- ClinVar RCV003317748
- UniProt VAR 059048
- Likely pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense… (PMID 19268523)
- Cited in: T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone… (PMID 10660344)