V458A (p.Val458Ala) variant of THRB (Thyroid hormone receptor beta)
V458A (p.Val458Ala) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
V458A (p.Val458Ala) variant details
- p.Val458Ala
- rs121918704
- ClinGen CA122505
- ClinVar RCV000852377
- ClinVar RCV000986043
- Likely pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.88
- PolyPhen-2 0.92
- SIFT 0.01
- EVE 0.46
- ClinVar: Likely pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone… (PMID 8875752)