E90K (p.Glu90Lys) variant of THRB (Thyroid hormone receptor beta)
E90K (p.Glu90Lys) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E90K (p.Glu90Lys) variant details
- p.Glu90Lys
- TOPMed rs1428476390
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.30
- Population evidence available
- Structural context available