A268D (p.Ala268Asp) variant of THRB (Thyroid hormone receptor beta)
A268D (p.Ala268Asp) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Selective pituitary resistance to thyroid hormone; Thyroid hormone. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
A268D (p.Ala268Asp) variant details
- p.Ala268Asp
- rs750905761
- ClinGen CA351889764
- ClinVar RCV003477386
- ClinVar RCV004796814
- Conflicting interpretations
- not provided; Selective pituitary resistance to thyroid hormone; Thyroid hormone
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.71
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.40
- ClinVar: Conflicting classifications of pathogenicity (not provided; Selective pituitary resistance to thyroid hormone;)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available