R46L (p.Arg46Leu) variant of THRB (Thyroid hormone receptor beta)
R46L (p.Arg46Leu) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- 1000Genomes rs556429294
- ExAC rs556429294
- TOPMed rs556429294
- gnomAD rs556429294
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available