T314M (p.Thr314Met) variant of TH (Tyrosine 3-monooxygenase)
T314M (p.Thr314Met) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T314M (p.Thr314Met) variant details
- p.Thr314Met
- rs121917764
- ClinGen CA379126409
- ClinVar RCV000623066
- UniProt VAR 014029
- Conflicting interpretations
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Structural context available
- Cited in: Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. (PMID 11246459)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)