E105K (p.Glu105Lys) variant of THRB (Thyroid hormone receptor beta)
E105K (p.Glu105Lys) 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.
E105K (p.Glu105Lys) variant details
- p.Glu105Lys
- Ensembl rs2149104148
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available