P453A (p.Pro453Ala) variant of THRB (Thyroid hormone receptor beta)
P453A (p.Pro453Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P453A (p.Pro453Ala) variant details
- p.Pro453Ala
- rs28933408
- ClinGen CA2287079
- ClinVar RCV000584309
- ClinVar RCV001284714
- Pathogenic/Likely pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.06
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- 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