G294R (p.Gly294Arg) variant of TH (Tyrosine 3-monooxygenase)
G294R (p.Gly294Arg) 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 provided; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G294R (p.Gly294Arg) variant details
- p.Gly294Arg
- rs755536257
- ClinGen CA5818489
- ClinVar RCV000666139
- ClinVar RCV001756124
- Conflicting interpretations
- not provided; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.11
- MetaLR 0.98
- MetaSVM 1.12
- PolyPhen-2 0.98
- SIFT 0.07
- EVE 0.29
- ClinVar: Conflicting classifications of pathogenicity (not provided; 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. (PMID 20301610)