H435Q (p.His435Gln) variant of THRB (Thyroid hormone receptor beta)
H435Q (p.His435Gln) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thyroid hormone resistance syndrome; Thyroid hormone resistance, generalized, au. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
H435Q (p.His435Gln) variant details
- p.His435Gln
- rs1553609185
- ClinGen CA351886612
- ClinVar RCV000501334
- ClinVar RCV000582569
- Pathogenic
- Thyroid hormone resistance syndrome; Thyroid hormone resistance, generalized, au
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.41
- ClinVar: Pathogenic (Thyroid hormone resistance syndrome; Thyroid hormone resistance,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available