R46L (p.Arg46Leu) variant of TSHR (Thyrotropin receptor)
R46L (p.Arg46Leu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- gnomAD 14-80955817-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.16
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available