C360Y (p.Cys360Tyr) variant of TH (Tyrosine 3-monooxygenase)
C360Y (p.Cys360Tyr) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C360Y (p.Cys360Tyr) variant details
- p.Cys360Tyr
- rs529606014
- gnomAD 11-2165732-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.91
- CADD 24.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available