R17R (p.Arg17Arg) variant of TSHR (Thyrotropin receptor)
R17R (p.Arg17Arg) in TSHR (Thyrotropin receptor) is a synonymous 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.
R17R (p.Arg17Arg) variant details
- p.Arg17Arg
- rs147305381
- gnomAD 14-80955731-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 5.88
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available