Q412K (p.Gln412Lys) variant of TH (Tyrosine 3-monooxygenase)
Q412K (p.Gln412Lys) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q412K (p.Gln412Lys) variant details
- p.Gln412Lys
- rs121917762
- ClinGen CA379125696
- ClinVar RCV003474127
- UniProt VAR 014031
- Pathogenic/Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 0.27
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.41
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)
- Cited in: A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. (PMID 7814018)