G345S (p.Gly345Ser) variant of THRB (Thyroid hormone receptor beta)
G345S (p.Gly345Ser) 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 0.80 / 1. The record also includes published literature and structural context.
G345S (p.Gly345Ser) variant details
- p.Gly345Ser
- rs121918686
- ClinGen CA122485
- ClinVar RCV000013379
- ClinVar RCV002476957
- Pathogenic
- not provided; 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 (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone… (PMID 1563081)
- Cited in: Familial thyroid hormone resistance. (PMID 7200565)