D71E (p.Asp71Glu) variant of THRB (Thyroid hormone receptor beta)
D71E (p.Asp71Glu) 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 THRB-related disorder; not provided; Thyroid hormone resistance, generalized, au. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D71E (p.Asp71Glu) variant details
- p.Asp71Glu
- rs141495471
- ClinGen CA2287410
- ClinVar RCV000375892
- ClinVar RCV001800658
- Conflicting interpretations
- THRB-related disorder; not provided; Thyroid hormone resistance, generalized, au
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 19.70
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (THRB-related disorder; not provided; Thyroid hormone resistance,)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available