G43S (p.Gly43Ser) variant of TH (Tyrosine 3-monooxygenase)
G43S (p.Gly43Ser) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- rs200295434
- ClinGen CA5818825
- ClinVar RCV003050946
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.09
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 0.03
- SIFT 0.45
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)