R38G (p.Arg38Gly) variant of TSHR (Thyrotropin receptor)
R38G (p.Arg38Gly) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- gnomAD 14-80955792-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.55
- CADD 24.80
- PolyPhen-2 0.45
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available