D73E (p.Asp73Glu) variant of THRB (Thyroid hormone receptor beta)
D73E (p.Asp73Glu) 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 0.07 / 1. The record also includes population frequency data and structural context.
D73E (p.Asp73Glu) variant details
- p.Asp73Glu
- TOPMed rs780345379
- gnomAD rs780345379
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0703
- CADD 0.33
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available