C279F (p.Cys279Phe) variant of TH (Tyrosine 3-monooxygenase)
C279F (p.Cys279Phe) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ARSEGS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
C279F (p.Cys279Phe) variant details
- p.Cys279Phe
- rs1273610334
- UniProt VAR 071716
- gnomAD rs1273610334
- Pathogenic
- in ARSEGS
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. (PMID 21940685)
- Cited in: Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. (PMID 10585338)