L363P (p.Leu363Pro) variant of TH (Tyrosine 3-monooxygenase)
L363P (p.Leu363Pro) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L363P (p.Leu363Pro) variant details
- p.Leu363Pro
- rs777379609
- Likely pathogenic
- Missense
- EBI: ['likely-pathogenic']
- UniProt: Likely-pathogenic
- Structural context available