P453T (p.Pro453Thr) variant of THRB (Thyroid hormone receptor beta)
P453T (p.Pro453Thr) 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 not provided; Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P453T (p.Pro453Thr) variant details
- p.Pro453Thr
- rs28933408
- ClinGen CA122481
- ClinVar RCV000013377
- ClinVar RCV000725589
- Pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Population evidence available
- Structural context available
- Cited in: A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a… (PMID 1619012)
- Cited in: Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid… (PMID 1661299)