R328W (p.Arg328Trp) variant of TH (Tyrosine 3-monooxygenase)
R328W (p.Arg328Trp) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R328W (p.Arg328Trp) variant details
- p.Arg328Trp
- rs1428589694
- ClinGen CA379126279
- ClinVar RCV003058271
- ClinVar RCV005869991
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Structural context available
- Cited in: Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. (PMID 16049992)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)