T327N (p.Thr327Asn) variant of THRB (Thyroid hormone receptor beta)
T327N (p.Thr327Asn) 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 0.80 / 1. The record also includes structural context.
T327N (p.Thr327Asn) variant details
- p.Thr327Asn
- rs1553611038
- ClinGen CA351888826
- ClinVar RCV000582153
- Ensembl rs1553611038
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.93
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.36
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available