R133del (p.Arg133del) variant of THRB (Thyroid hormone receptor beta)
R133del (p.Arg133del) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R133del (p.Arg133del) variant details
- gnomAD 3-24146806-GTTC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available