H25Q (p.His25Gln) variant of THRB (Thyroid hormone receptor beta)
H25Q (p.His25Gln) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H25Q (p.His25Gln) variant details
- p.His25Gln
- ExAC rs760778175
- TOPMed rs760778175
- gnomAD rs760778175
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available