G388D (p.Gly388Asp) variant of TH (Tyrosine 3-monooxygenase)
G388D (p.Gly388Asp) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G388D (p.Gly388Asp) variant details
- p.Gly388Asp
- gnomAD 11-2165702-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.87
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available