T54R (p.Thr54Arg) variant of TSHR (Thyrotropin receptor)
T54R (p.Thr54Arg) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T54R (p.Thr54Arg) variant details
- p.Thr54Arg
- gnomAD 14-80955841-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.26
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available