S44F (p.Ser44Phe) variant of TH (Tyrosine 3-monooxygenase)
S44F (p.Ser44Phe) 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 0.65 / 1. The record also includes published literature and structural context.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- rs1313952475
- ClinGen CA379112664
- ClinVar RCV000671704
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.10
- MetaLR 0.88
- MetaSVM 1.01
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.24
- 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)