R61S (p.Arg61Ser) variant of TH (Tyrosine 3-monooxygenase)
R61S (p.Arg61Ser) 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 0.65 / 1. The record also includes published literature and structural context.
R61S (p.Arg61Ser) variant details
- p.Arg61Ser
- rs1330998143
- ClinGen CA379112566
- ClinVar RCV001302461
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.15
- MetaLR 0.87
- MetaSVM 0.68
- PolyPhen-2 0.01
- SIFT 0.18
- MutPred 0.18
- 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)