S307Y (p.Ser307Tyr) variant of TH (Tyrosine 3-monooxygenase)
S307Y (p.Ser307Tyr) 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 record also includes published literature and structural context.
S307Y (p.Ser307Tyr) variant details
- p.Ser307Tyr
- rs2495805112
- ClinGen CA379126540
- ClinVar RCV002685854
- Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- ClinVar: Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)