I394F (p.Ile394Phe) variant of TH (Tyrosine 3-monooxygenase)
I394F (p.Ile394Phe) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I394F (p.Ile394Phe) variant details
- p.Ile394Phe
- rs1005978945
- gnomAD 11-2165341-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.28
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available