A28P (p.Ala28Pro) variant of TH (Tyrosine 3-monooxygenase)
A28P (p.Ala28Pro) 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 0.71 / 1. The record also includes published literature and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- rs769342435
- ClinGen CA379112772
- ClinVar RCV002828196
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.18
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.21
- SIFT 0.00
- MutPred 0.11
- 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)