Q33* (p.Gln33Ter) variant of TSHR (Thyrotropin receptor)
Q33* (p.Gln33Ter) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- gnomAD 14-80955777-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available