R46C (p.Arg46Cys) variant of THRB (Thyroid hormone receptor beta)
R46C (p.Arg46Cys) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs754933969
- NCI-TCGA Cosmic COSV6283
- cosmic curated COSV62835
- ExAC rs754933969
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available