L49F (p.Leu49Phe) variant of THRB (Thyroid hormone receptor beta)
L49F (p.Leu49Phe) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- ESP rs367747228
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 17.60
- PolyPhen-2 0.35
- SIFT 0.00
- Population evidence available
- Structural context available