P492L (p.Pro492Leu) variant of TH (Tyrosine 3-monooxygenase)
P492L (p.Pro492Leu) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P492L (p.Pro492Leu) variant details
- p.Pro492Leu
- rs767635052
- ClinGen CA5818258
- cosmic curated COSV99048
- ClinVar RCV001300835
- Pathogenic/Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.52
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. (PMID 17696123)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)