T123M (p.Thr123Met) variant of THRB (Thyroid hormone receptor beta)
T123M (p.Thr123Met) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
T123M (p.Thr123Met) variant details
- p.Thr123Met
- cosmic curated COSV54980
- ExAC rs763024316
- gnomAD rs763024316
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available