F375L (p.Phe375Leu) variant of TH (Tyrosine 3-monooxygenase)
F375L (p.Phe375Leu) 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 not provided; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
F375L (p.Phe375Leu) variant details
- p.Phe375Leu
- rs763198914
- ClinGen CA379125954
- ClinVar RCV002593546
- ClinVar RCV004809847
- Likely pathogenic
- not provided; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.99
- MetaLR 0.19
- MetaSVM -0.83
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.46
- ClinVar: Likely pathogenic (not provided; Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Structural context available
- Cited in: Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID 19491146)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)