Y344* (p.Tyr344Ter) variant of TH (Tyrosine 3-monooxygenase)
Y344* (p.Tyr344Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y344* (p.Tyr344Ter) variant details
- p.Tyr344Ter
- gnomAD 11-2165758-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 47.00
- Population evidence available
- Structural context available
- Literature evidence available