Y117C (p.Tyr117Cys) variant of THRB (Thyroid hormone receptor beta)
Y117C (p.Tyr117Cys) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y117C (p.Tyr117Cys) variant details
- p.Tyr117Cys
- TOPMed rs1270859327
- gnomAD rs1270859327
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available