H69Y (p.His69Tyr) variant of THRB (Thyroid hormone receptor beta)
H69Y (p.His69Tyr) 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 0.63 / 1. The record also includes population frequency data and structural context.
H69Y (p.His69Tyr) variant details
- p.His69Tyr
- rs756399184
- NCI-TCGA Cosmic COSV6284
- cosmic curated COSV62841
- ExAC rs756399184
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available