C36Y (p.Cys36Tyr) variant of THRB (Thyroid hormone receptor beta)
C36Y (p.Cys36Tyr) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
C36Y (p.Cys36Tyr) variant details
- p.Cys36Tyr
- ExAC rs758677446
- TOPMed rs758677446
- gnomAD rs758677446
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available