E392* (p.Glu392Ter) variant of TH (Tyrosine 3-monooxygenase)
E392* (p.Glu392Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E392* (p.Glu392Ter) variant details
- p.Glu392Ter
- gnomAD 11-2165718-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available