T7I (p.Thr7Ile) variant of THRB (Thyroid hormone receptor beta)
T7I (p.Thr7Ile) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- rs750046403
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- ExAC rs750046403
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 29.70
- PolyPhen-2 0.03
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available