H57L (p.His57Leu) variant of THRB (Thyroid hormone receptor beta)
H57L (p.His57Leu) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H57L (p.His57Leu) variant details
- p.His57Leu
- TOPMed rs1415456382
- gnomAD rs1415456382
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available