G345R (p.Gly345Arg) variant of THRB (Thyroid hormone receptor beta)
G345R (p.Gly345Arg) 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 0.80 / 1. The record also includes published literature and structural context.
G345R (p.Gly345Arg) variant details
- p.Gly345Arg
- rs121918686
- ClinGen CA122452
- ClinVar RCV000013362
- UniProt VAR 004645
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.29
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Structural analysis of human thyroid hormone receptor beta gene. (PMID 1973914)
- Cited in: Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in… (PMID 1991834)