H246Y (p.His246Tyr) variant of TH (Tyrosine 3-monooxygenase)
H246Y (p.His246Tyr) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H246Y (p.His246Tyr) variant details
- p.His246Tyr
- UniProt VAR 072866
- Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.73
- CADD 23.50
- PolyPhen-2 0.48
- SIFT 0.05
- ClinVar: Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by… (PMID 15747353)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)