G428R (p.Gly428Arg) variant of TH (Tyrosine 3-monooxygenase)
G428R (p.Gly428Arg) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G428R (p.Gly428Arg) variant details
- p.Gly428Arg
- rs1264884607
- ClinGen CA379125600
- ClinVar RCV003511573
- UniProt VAR 071720
- Pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. (PMID 22815559)
- Cited in: GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. (PMID 23762320)