L236P (p.Leu236Pro) variant of TH (Tyrosine 3-monooxygenase)
L236P (p.Leu236Pro) 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 not provided; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L236P (p.Leu236Pro) variant details
- p.Leu236Pro
- rs121917763
- ClinGen CA341191
- ClinVar RCV000013118
- ClinVar RCV002274896
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 0.85
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.71
- SIFT 0.13
- EVE 0.24
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation… (PMID 10407773)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)