E460K (p.Glu460Lys) variant of THRB (Thyroid hormone receptor beta)
E460K (p.Glu460Lys) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thyroid hormone resistance, generalized, autosomal dominant; Resistance to thyro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E460K (p.Glu460Lys) variant details
- p.Glu460Lys
- rs1553609090
- ClinGen CA351886454
- ClinVar RCV000583209
- ClinVar RCV001800809
- Pathogenic/Likely pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant; Resistance to thyro
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 24.20
- PolyPhen-2 0.22
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Thyroid hormone resistance, generalized, autosomal dominant; Res)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available