M313T (p.Met313Thr) variant of THRB (Thyroid hormone receptor beta)
M313T (p.Met313Thr) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.65 / 1. The record also includes population frequency data and structural context.
M313T (p.Met313Thr) variant details
- p.Met313Thr
- rs1553611083
- ClinGen CA351888916
- ClinVar RCV000583370
- ClinVar RCV001800808
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 26.90
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available