W14R (p.Trp14Arg) variant of THRB (Thyroid hormone receptor beta)
W14R (p.Trp14Arg) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
W14R (p.Trp14Arg) variant details
- p.Trp14Arg
- rs777353759
- ClinGen CA2287458
- ClinVar RCV001461833
- ExAC rs777353759
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 25.00
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available