K50Q (p.Lys50Gln) variant of THRB (Thyroid hormone receptor beta)
K50Q (p.Lys50Gln) 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 Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone res. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
K50Q (p.Lys50Gln) variant details
- p.Lys50Gln
- ESP rs374885395
- ExAC rs374885395
- TOPMed rs374885395
- gnomAD rs374885395
- Uncertain significance
- Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone res
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Thyroid hormone resistance, generalized, autosomal dominant; Thy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available