T61N (p.Thr61Asn) variant of THRB (Thyroid hormone receptor beta)
T61N (p.Thr61Asn) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T61N (p.Thr61Asn) variant details
- p.Thr61Asn
- rs886058292
- ClinGen CA10618010
- ClinVar RCV000281467
- Ensembl rs886058292
- Uncertain significance
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available