S55F (p.Ser55Phe) variant of TH (Tyrosine 3-monooxygenase)
S55F (p.Ser55Phe) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
S55F (p.Ser55Phe) variant details
- p.Ser55Phe
- rs1195830888
- ClinGen CA379112602
- ClinVar RCV000671574
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.13
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 0.34
- SIFT 0.01
- MutPred 0.29
- 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)