E30* (p.Glu30Ter) variant of TSHR (Thyrotropin receptor)
E30* (p.Glu30Ter) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- gnomAD 14-80955768-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available