A241T (p.Ala241Thr) variant of TH (Tyrosine 3-monooxygenase)
A241T (p.Ala241Thr) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A241T (p.Ala241Thr) variant details
- p.Ala241Thr
- rs1260455415
- ClinGen CA379128007
- ClinVar RCV001948824
- ClinVar RCV003355679
- Pathogenic/Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.31
- MetaLR 0.40
- MetaSVM -0.14
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.32
- 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: Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (PMID 20430833)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)