E392G (p.Glu392Gly) variant of TH (Tyrosine 3-monooxygenase)
E392G (p.Glu392Gly) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E392G (p.Glu392Gly) variant details
- p.Glu392Gly
- rs540601354
- gnomAD 11-2165717-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.42
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available