G383R (p.Gly383Arg) variant of TH (Tyrosine 3-monooxygenase)
G383R (p.Gly383Arg) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G383R (p.Gly383Arg) variant details
- p.Gly383Arg
- rs370962049
- gnomAD 11-2165721-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.91
- AlphaMissense 0.46
- MetaLR 0.44
- MetaSVM -0.01
- CADD 24.00
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available