G383W (p.Gly383Trp) variant of TH (Tyrosine 3-monooxygenase)
G383W (p.Gly383Trp) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G383W (p.Gly383Trp) variant details
- p.Gly383Trp
- rs370962049
- gnomAD 11-2165721-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.82
- AlphaMissense 0.46
- MetaLR 0.44
- MetaSVM -0.01
- CADD 24.30
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available