G247S (p.Gly247Ser) variant of TH (Tyrosine 3-monooxygenase)
G247S (p.Gly247Ser) 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; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G247S (p.Gly247Ser) variant details
- p.Gly247Ser
- rs762304556
- ClinGen CA5818546
- ClinVar RCV001220234
- ClinVar RCV001353113
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive DOPA responsive dystonia; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.56
- MetaLR 0.60
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive DOPA responsive dystonia; Dyst)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. (PMID 18554280)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)