T48M (p.Thr48Met) variant of THRB (Thyroid hormone receptor beta)
T48M (p.Thr48Met) 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 0.59 / 1. The record also includes population frequency data and structural context.
T48M (p.Thr48Met) variant details
- p.Thr48Met
- rs758209560
- NCI-TCGA Cosmic COSV6283
- cosmic curated COSV62838
- ExAC rs758209560
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available