S65T (p.Ser65Thr) variant of THRB (Thyroid hormone receptor beta)
S65T (p.Ser65Thr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S65T (p.Ser65Thr) variant details
- p.Ser65Thr
- ExAC rs758160589
- TOPMed rs758160589
- gnomAD rs758160589
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available