Q55R (p.Gln55Arg) variant of TSHR (Thyrotropin receptor)
Q55R (p.Gln55Arg) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q55R (p.Gln55Arg) variant details
- p.Gln55Arg
- gnomAD 14-80955844-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.04
- CADD 18.20
- PolyPhen-2 0.06
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available