R120H (p.Arg120His) variant of THRB (Thyroid hormone receptor beta)
R120H (p.Arg120His) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R120H (p.Arg120His) variant details
- p.Arg120His
- ExAC rs766622559
- TOPMed rs766622559
- gnomAD rs766622559
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.20
- Population evidence available
- Structural context available