R46P (p.Arg46Pro) variant of TSHR (Thyrotropin receptor)
R46P (p.Arg46Pro) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R46P (p.Arg46Pro) variant details
- p.Arg46Pro
- gnomAD 14-80955817-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.52
- CADD 17.10
- PolyPhen-2 0.14
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available