G344E (p.Gly344Glu) variant of THRB (Thyroid hormone receptor beta)
G344E (p.Gly344Glu) 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 0.79 / 1. The record also includes structural context.
G344E (p.Gly344Glu) variant details
- p.Gly344Glu
- rs1553610974
- ClinGen CA351888716
- ClinVar RCV000582292
- Ensembl rs1553610974
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.28
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available