G414R (p.Gly414Arg) variant of TH (Tyrosine 3-monooxygenase)
G414R (p.Gly414Arg) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G414R (p.Gly414Arg) variant details
- p.Gly414Arg
- rs370962049
- ClinGen CA5818361
- ClinVar RCV003317689
- UniProt VAR 072882
- Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.46
- MetaLR 0.44
- MetaSVM -0.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. (PMID 18058633)
- Cited in: Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID 19491146)