H140Q (p.His140Gln) variant of THRB (Thyroid hormone receptor beta)
H140Q (p.His140Gln) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H140Q (p.His140Gln) variant details
- p.His140Gln
- gnomAD 3-24146787-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 22.80
- PolyPhen-2 0.84
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available