D391H (p.Asp391His) variant of TH (Tyrosine 3-monooxygenase)
D391H (p.Asp391His) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D391H (p.Asp391His) variant details
- p.Asp391His
- rs201996748
- gnomAD 11-2165329-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.76
- CADD 23.70
- PolyPhen-2 0.15
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available