L139I (p.Leu139Ile) variant of THRB (Thyroid hormone receptor beta)
L139I (p.Leu139Ile) 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 0.79 / 1. The record also includes population frequency data and structural context.
L139I (p.Leu139Ile) variant details
- p.Leu139Ile
- rs1467626353
- cosmic curated COSV10460
- gnomAD rs1467626353
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available