T56T (p.Thr56Thr) variant of TSHR (Thyrotropin receptor)
T56T (p.Thr56Thr) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T56T (p.Thr56Thr) variant details
- p.Thr56Thr
- rs1390619232
- gnomAD 14-80955848-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0878
- CADD 1.01
- Population evidence available
- Structural context available
- Literature evidence available