L49M (p.Leu49Met) variant of THRB (Thyroid hormone receptor beta)
L49M (p.Leu49Met) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
L49M (p.Leu49Met) variant details
- p.Leu49Met
- ExAC rs764343535
- gnomAD rs764343535
- Missense
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 4.08
- PolyPhen-2 0.35
- SIFT 0.00
- Population evidence available
- Structural context available