E34K (p.Glu34Lys) variant of THRB (Thyroid hormone receptor beta)
E34K (p.Glu34Lys) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- ExAC rs771428244
- gnomAD rs771428244
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available