C359F (p.Cys359Phe) variant of TH (Tyrosine 3-monooxygenase)
C359F (p.Cys359Phe) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
C359F (p.Cys359Phe) variant details
- p.Cys359Phe
- rs121917765
- ClinGen CA278134
- ClinVar RCV000013127
- UniProt VAR 072874
- Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.91
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. (PMID 10585338)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)