G388E (p.Gly388Glu) variant of TH (Tyrosine 3-monooxygenase)
G388E (p.Gly388Glu) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G388E (p.Gly388Glu) variant details
- p.Gly388Glu
- rs796758678
- gnomAD 11-2165696-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.93
- CADD 24.60
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available