I431M (p.Ile431Met) variant of THRB (Thyroid hormone receptor beta)
I431M (p.Ile431Met) 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 Hyperthyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
I431M (p.Ile431Met) variant details
- p.Ile431Met
- rs1553609195
- ClinGen CA351886639
- ClinVar RCV000584125
- ClinVar RCV006436847
- Pathogenic
- Hyperthyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.92
- MetaLR 0.86
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- ClinVar: Pathogenic (Hyperthyroidism)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense… (PMID 19268523)
- Cited in: T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone… (PMID 10660344)