R16G (p.Arg16Gly) variant of TH (Tyrosine 3-monooxygenase)
R16G (p.Arg16Gly) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- rs753005879
- ClinGen CA379112846
- ClinVar RCV002730799
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.64
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)