G23R (p.Gly23Arg) variant of TSHR (Thyrotropin receptor)
G23R (p.Gly23Arg) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- TOPMed rs1886632792
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.05
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available