P453S (p.Pro453Ser) variant of THRB (Thyroid hormone receptor beta)
P453S (p.Pro453Ser) 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; Hyperthyroidism; Thyroid hormone resistance, generalized, autosoma. 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.
P453S (p.Pro453Ser) variant details
- p.Pro453Ser
- rs28933408
- ClinGen CA351886499
- ClinVar RCV000507528
- ClinVar RCV000583070
- Pathogenic
- not provided; Hyperthyroidism; Thyroid hormone resistance, generalized, autosoma
- 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; Hyperthyroidism; Thyroid hormone resistance, gener)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Population evidence available
- Structural context available
- Cited in: Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the… (PMID 7833659)
- Cited in: T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone… (PMID 10660344)