G388R (p.Gly388Arg) variant of TH (Tyrosine 3-monooxygenase)
G388R (p.Gly388Arg) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G388R (p.Gly388Arg) variant details
- p.Gly388Arg
- rs1264884607
- gnomAD 11-2165679-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.98
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.96
- CADD 32.00
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available