S55L (p.Ser55Leu) variant of THRB (Thyroid hormone receptor beta)
S55L (p.Ser55Leu) 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 0.49 / 1. The record also includes population frequency data and structural context.
S55L (p.Ser55Leu) variant details
- p.Ser55Leu
- rs926854046
- NCI-TCGA Cosmic COSV6283
- cosmic curated COSV62836
- TOPMed rs926854046
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available