V367L (p.Val367Leu) variant of TH (Tyrosine 3-monooxygenase)
V367L (p.Val367Leu) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V367L (p.Val367Leu) variant details
- p.Val367Leu
- gnomAD 11-2165748-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.89
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available