S19C (p.Ser19Cys) variant of TH (Tyrosine 3-monooxygenase)
S19C (p.Ser19Cys) 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 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.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- rs766704202
- ClinGen CA5818875
- cosmic curated COSV60766
- ClinVar RCV002295375
- Conflicting interpretations
- not specified; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.62
- MetaLR 0.98
- MetaSVM 1.03
- CADD 25.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Autosomal recessive DOPA responsive dystonia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. (PMID 23762320)
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)