H32Y (p.His32Tyr) variant of TSHR (Thyrotropin receptor)
H32Y (p.His32Tyr) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H32Y (p.His32Tyr) variant details
- p.His32Tyr
- ExAC rs769881177
- TOPMed rs769881177
- gnomAD rs769881177
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.14
- CADD 17.50
- PolyPhen-2 0.08
- SIFT 0.95
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available