L450F (p.Leu450Phe) variant of THRB (Thyroid hormone receptor beta)
L450F (p.Leu450Phe) 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 0.73 / 1. The record also includes structural context.
L450F (p.Leu450Phe) variant details
- p.Leu450Phe
- rs1553609152
- ClinGen CA351886517
- ClinVar RCV000584164
- Ensembl rs1553609152
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.83
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.24
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available