R337H (p.Arg337His) variant of TH (Tyrosine 3-monooxygenase)
R337H (p.Arg337His) 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 Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes population frequency data, published literature, and structural context.
R337H (p.Arg337His) variant details
- p.Arg337His
- rs28934580
- ClinGen CA278131
- ClinVar RCV000013121
- UniProt VAR 014030
- Pathogenic/Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. (PMID 11246459)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)