T276P (p.Thr276Pro) variant of TH (Tyrosine 3-monooxygenase)
T276P (p.Thr276Pro) 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 not specified; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T276P (p.Thr276Pro) variant details
- p.Thr276Pro
- rs28934581
- ClinGen CA278132
- ClinVar RCV000013122
- ClinVar RCV005055512
- Uncertain significance
- not specified; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.20
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.90
- SIFT 0.00
- EVE 0.50
- ClinVar: Uncertain significance (not specified; Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- 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)