S53T (p.Ser53Thr) variant of TSHR (Thyrotropin receptor)
S53T (p.Ser53Thr) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- gnomAD 14-80955838-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.06
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available