Y370del (p.Tyr370del) variant of TH (Tyrosine 3-monooxygenase)
Y370del (p.Tyr370del) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y370del (p.Tyr370del) variant details
- gnomAD 11-2165758-GTAC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available