I67V (p.Ile67Val) variant of THRB (Thyroid hormone receptor beta)
I67V (p.Ile67Val) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of THRB-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I67V (p.Ile67Val) variant details
- p.Ile67Val
- rs147795893
- ClinGen CA2287413
- ClinVar RCV003901856
- 1000Genomes rs147795893
- Uncertain significance
- THRB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 9.68
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (THRB-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available