R320L (p.Arg320Leu) variant of THRB (Thyroid hormone receptor beta)
R320L (p.Arg320Leu) 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 Inborn genetic diseases; not provided; Hyperthyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
R320L (p.Arg320Leu) variant details
- p.Arg320Leu
- rs121918693
- ClinGen CA122501
- ClinVar RCV000013390
- Ensembl rs121918693
- Pathogenic
- Inborn genetic diseases; not provided; Hyperthyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 0.95
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- ClinVar: Pathogenic (Selective pituitary resistance to thyroid hormone)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of… (PMID 8040303)