Q380K (p.Gln380Lys) variant of TH (Tyrosine 3-monooxygenase)
Q380K (p.Gln380Lys) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q380K (p.Gln380Lys) variant details
- p.Gln380Lys
- rs121917762
- gnomAD 11-2165727-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.81
- AlphaMissense 0.27
- MetaLR 0.99
- MetaSVM 1.03
- CADD 24.80
- PolyPhen-2 0.99
- Population evidence available
- Structural context available
- Literature evidence available