E8A (p.Glu8Ala) variant of THRB (Thyroid hormone receptor beta)
E8A (p.Glu8Ala) 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 0.67 / 1. The record also includes population frequency data and structural context.
E8A (p.Glu8Ala) variant details
- p.Glu8Ala
- gnomAD rs2043178862
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 31.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available