T56A (p.Thr56Ala) variant of TSHR (Thyrotropin receptor)
T56A (p.Thr56Ala) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- gnomAD 14-80955846-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.33
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available