T277I (p.Thr277Ile) variant of THRB (Thyroid hormone receptor beta)
T277I (p.Thr277Ile) 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 not provided; Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
T277I (p.Thr277Ile) variant details
- p.Thr277Ile
- rs2148894604
- ClinGen CA351889698
- ClinVar RCV001817741
- ClinVar RCV006690996
- Pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available