K50I (p.Lys50Ile) variant of THRB (Thyroid hormone receptor beta)
K50I (p.Lys50Ile) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K50I (p.Lys50Ile) variant details
- p.Lys50Ile
- TOPMed rs1337139174
- gnomAD rs1337139174
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 22.70
- Population evidence available
- Structural context available