S314F (p.Ser314Phe) variant of THRB (Thyroid hormone receptor beta)
S314F (p.Ser314Phe) 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.
S314F (p.Ser314Phe) variant details
- p.Ser314Phe
- rs1553611075
- ClinGen CA351888908
- ClinVar RCV000584605
- Ensembl rs1553611075
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.22
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available