R233H (p.Arg233His) variant of TH (Tyrosine 3-monooxygenase)
R233H (p.Arg233His) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
R233H (p.Arg233His) variant details
- p.Arg233His
- rs80338892
- ClinGen CA341192
- cosmic curated COSV60768
- NCI-TCGA Cosmic COSV6076
- Pathogenic
- not provided; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (not provided; Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation… (PMID 10407773)
- Cited in: Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. (PMID 18554280)