P453N (p.Pro453Asn) variant of THRB (Thyroid hormone receptor beta)
P453N (p.Pro453Asn) 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 not provided; Thyroid hormone resistance, generalized, autosomal dominant. The record also includes structural context.
P453N (p.Pro453Asn) variant details
- p.Pro453Asn
- rs2148780504
- ClinGen CA2580069619
- ClinVar RCV003149098
- ClinVar RCV005638652
- Likely pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- ClinVar: Likely pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Likely pathogenic (in GRTHD)
- UniProt: Likely pathogenic (in GRTHD)
- Structural context available