P249S (p.Pro249Ser) variant of TH (Tyrosine 3-monooxygenase)
P249S (p.Pro249Ser) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive DOPA responsive dystonia. The record also includes published literature and structural context.
P249S (p.Pro249Ser) variant details
- p.Pro249Ser
- rs2495812183
- ClinGen CA379127500
- ClinVar RCV003055520
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)