P52L (p.Pro52Leu) variant of TH (Tyrosine 3-monooxygenase)
P52L (p.Pro52Leu) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- rs781594548
- ClinGen CA5818816
- ClinVar RCV003061460
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.11
- MetaLR 0.91
- MetaSVM 0.91
- PolyPhen-2 0.00
- SIFT 0.33
- MutPred 0.26
- 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)