T337A (p.Thr337Ala) variant of THRB (Thyroid hormone receptor beta)
T337A (p.Thr337Ala) 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 Selective pituitary resistance to thyroid hormone. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
T337A (p.Thr337Ala) variant details
- p.Thr337Ala
- rs121918709
- ClinGen CA122515
- ClinVar RCV000013397
- Ensembl rs121918709
- Pathogenic
- Selective pituitary resistance to thyroid hormone
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.48
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 0.30
- SIFT 0.01
- EVE 0.34
- ClinVar: Pathogenic (Selective pituitary resistance to thyroid hormone)
- EBI: Pathogenic (in GRTHR)
- UniProt: Pathogenic (in GRTHR)
- Structural context available
- Cited in: Prenatal diagnosis of thyroid hormone resistance. (PMID 10022392)