R120C (p.Arg120Cys) variant of THRB (Thyroid hormone receptor beta)
R120C (p.Arg120Cys) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R120C (p.Arg120Cys) variant details
- p.Arg120Cys
- ExAC rs752495674
- gnomAD rs752495674
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available