P453H (p.Pro453His) variant of THRB (Thyroid hormone receptor beta)
P453H (p.Pro453His) 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 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.
P453H (p.Pro453His) variant details
- p.Pro453His
- rs121918687
- ClinGen CA122456
- ClinVar RCV000013364
- UniProt VAR 004653
- 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: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in… (PMID 1991834)
- Cited in: A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance.… (PMID 2153155)