S47G (p.Ser47Gly) variant of THRB (Thyroid hormone receptor beta)
S47G (p.Ser47Gly) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- 1000Genomes rs538327722
- ExAC rs538327722
- TOPMed rs538327722
- gnomAD rs538327722
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 6.96
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available