R296Q (p.Arg296Gln) variant of TH (Tyrosine 3-monooxygenase)
R296Q (p.Arg296Gln) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R296Q (p.Arg296Gln) variant details
- p.Arg296Gln
- rs199961079
- ClinGen CA5818486
- ClinVar RCV001277075
- UniProt VAR 071717
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.07
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 0.06
- SIFT 0.10
- EVE 0.12
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. (PMID 21940685)
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)