Q380H (p.Gln380His) variant of TH (Tyrosine 3-monooxygenase)
Q380H (p.Gln380His) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q380H (p.Gln380His) variant details
- p.Gln380His
- rs1846071715
- gnomAD 11-2165725-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.84
- AlphaMissense 0.73
- MetaLR 0.98
- MetaSVM 0.93
- CADD 22.80
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available