S226L (p.Ser226Leu) variant of TH (Tyrosine 3-monooxygenase)
S226L (p.Ser226Leu) 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.
S226L (p.Ser226Leu) variant details
- p.Ser226Leu
- rs372409517
- ClinGen CA5818585
- cosmic curated COSV60766
- ClinVar RCV001271316
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.14
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.04
- EVE 0.18
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)