T399M (p.Thr399Met) variant of TH (Tyrosine 3-monooxygenase)
T399M (p.Thr399Met) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T399M (p.Thr399Met) variant details
- p.Thr399Met
- rs1057520384
- ClinGen CA16605881
- cosmic curated COSV51747
- ClinVar RCV000433260
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.67
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. (PMID 16049992)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)