L139del (p.Leu139del) variant of THRB (Thyroid hormone receptor beta)
L139del (p.Leu139del) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L139del (p.Leu139del) variant details
- gnomAD 3-24146788-TGGA-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available