F451V (p.Phe451Val) variant of THRB (Thyroid hormone receptor beta)
F451V (p.Phe451Val) 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 Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
F451V (p.Phe451Val) variant details
- p.Phe451Val
- rs1057519028
- ClinGen CA16044050
- ClinVar RCV000416319
- Ensembl rs1057519028
- Likely pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.89
- PolyPhen-2 0.99
- SIFT 0.06
- EVE 0.22
- ClinVar: Likely pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available