A51T (p.Ala51Thr) variant of TH (Tyrosine 3-monooxygenase)
A51T (p.Ala51Thr) 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 population frequency data, published literature, and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs1186732715
- ClinGen CA379112628
- ClinVar RCV001971378
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 0.03
- SIFT 0.13
- MutPred 0.08
- 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)