A268G (p.Ala268Gly) variant of THRB (Thyroid hormone receptor beta)
A268G (p.Ala268Gly) 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; not provided; THRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A268G (p.Ala268Gly) variant details
- p.Ala268Gly
- rs750905761
- ClinGen CA351889763
- ClinVar RCV000583247
- ClinVar RCV000761462
- Pathogenic/Likely pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant; not provided; THRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.71
- MetaLR 0.89
- MetaSVM 0.95
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Thyroid hormone resistance, generalized, autosomal dominant; not)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Population evidence available
- Structural context available
- Cited in: Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense… (PMID 19268523)
- Cited in: T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone… (PMID 10660344)