G67V (p.Gly67Val) variant of TH (Tyrosine 3-monooxygenase)
G67V (p.Gly67Val) 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 0.81 / 1. The record also includes published literature and structural context.
G67V (p.Gly67Val) variant details
- p.Gly67Val
- rs1358506695
- ClinGen CA379112524
- ClinVar RCV002716979
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.61
- MetaLR 0.97
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.07
- MutPred 0.22
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)