R168H (p.Arg168His) variant of TH (Tyrosine 3-monooxygenase)
R168H (p.Arg168His) 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 0.44 / 1. The record also includes population frequency data and structural context.
R168H (p.Arg168His) variant details
- p.Arg168His
- rs768153273
- ExAC rs768153273
- TOPMed rs768153273
- gnomAD rs768153273
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.08
- MetaLR 0.65
- MetaSVM -0.09
- PolyPhen-2 0.00
- SIFT 0.54
- EVE 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available