M442V (p.Met442Val) variant of THRB (Thyroid hormone receptor beta)
M442V (p.Met442Val) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of THRB-related disorder; not provided; Thyroid hormone resistance, generalized, au. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
M442V (p.Met442Val) variant details
- p.Met442Val
- rs121918691
- ClinGen CA122477
- ClinVar RCV000013374
- ClinVar RCV000760087
- Likely pathogenic
- THRB-related disorder; not provided; Thyroid hormone resistance, generalized, au
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.93
- MetaLR 0.70
- MetaSVM 0.64
- PolyPhen-2 0.54
- SIFT 0.17
- EVE 0.23
- ClinVar: Likely pathogenic (THRB-related disorder; not provided; Thyroid hormone resistance,)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid… (PMID 1661299)
- Cited in: Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from… (PMID 8013151)