G345D (p.Gly345Asp) variant of THRB (Thyroid hormone receptor beta)
G345D (p.Gly345Asp) 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 0.81 / 1. The record also includes published literature and structural context.
G345D (p.Gly345Asp) variant details
- p.Gly345Asp
- rs28999970
- ClinGen CA122471
- ClinVar RCV000013371
- Ensembl rs28999970
- Pathogenic
- Generalized resistance to thyroid hormone
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic (Generalized resistance to thyroid hormone)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in… (PMID 1548332)
- Cited in: Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from… (PMID 8013151)