G315S (p.Gly315Ser) variant of TH (Tyrosine 3-monooxygenase)
G315S (p.Gly315Ser) 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 Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G315S (p.Gly315Ser) variant details
- p.Gly315Ser
- rs1288483479
- ClinGen CA379126405
- ClinVar RCV000674870
- UniProt VAR 071718
- Pathogenic/Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.53
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. (PMID 20056467)
- Cited in: Tyrosine hydroxylase deficiency in Taiwanese infants. (PMID 22264700)