G280R (p.Gly280Arg) variant of TH (Tyrosine 3-monooxygenase)
G280R (p.Gly280Arg) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G280R (p.Gly280Arg) variant details
- p.Gly280Arg
- rs749133549
- ExAC rs749133549
- TOPMed rs749133549
- gnomAD rs749133549
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.10
- MetaLR 0.95
- MetaSVM 0.98
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available