G21R (p.Gly21Arg) variant of TSHR (Thyrotropin receptor)
G21R (p.Gly21Arg) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- TOPMed rs1006500286
- gnomAD rs1006500286
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.31
- CADD 22.80
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available