Q412H (p.Gln412His) variant of TH (Tyrosine 3-monooxygenase)
Q412H (p.Gln412His) 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 0.88 / 1. The record also includes published literature and structural context.
Q412H (p.Gln412His) variant details
- p.Gln412His
- rs1846071715
- ClinGen CA379125692
- ClinVar RCV003340815
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.73
- MetaLR 0.98
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance (in ARSEGS)
- UniProt: Uncertain significance (in ARSEGS)
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)