L370H (p.Leu370His) variant of TH (Tyrosine 3-monooxygenase)
L370H (p.Leu370His) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L370H (p.Leu370His) variant details
- p.Leu370His
- gnomAD 11-2165762-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available