E362* (p.Glu362Ter) variant of TH (Tyrosine 3-monooxygenase)
E362* (p.Glu362Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E362* (p.Glu362Ter) variant details
- p.Glu362Ter
- rs1319079761
- gnomAD 11-2165745-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 50.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available