G383A (p.Gly383Ala) variant of TH (Tyrosine 3-monooxygenase)
G383A (p.Gly383Ala) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G383A (p.Gly383Ala) variant details
- p.Gly383Ala
- gnomAD 11-2165720-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.83
- CADD 22.90
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available