R46G (p.Arg46Gly) variant of TSHR (Thyrotropin receptor)
R46G (p.Arg46Gly) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- TOPMed rs1276734165
- gnomAD rs1276734165
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.29
- CADD 14.40
- PolyPhen-2 0.05
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available