A83V (p.Ala83Val) variant of THRB (Thyroid hormone receptor beta)
A83V (p.Ala83Val) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- ESP rs367980200
- TOPMed rs367980200
- gnomAD rs367980200
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available