I382T (p.Ile382Thr) variant of TH (Tyrosine 3-monooxygenase)
I382T (p.Ile382Thr) 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 0.90 / 1. The record also includes published literature and structural context.
I382T (p.Ile382Thr) variant details
- p.Ile382Thr
- rs1554922725
- ClinGen CA379125893
- ClinVar RCV000668836
- UniProt VAR 071719
- Pathogenic/Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.75
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Structural context available
- Cited in: Tyrosine hydroxylase deficiency in Taiwanese infants. (PMID 22264700)
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)