T341P (p.Thr341Pro) variant of LOX (Protein-lysine 6-oxidase)
T341P (p.Thr341Pro) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cutis laxa; Generalized arterial tortuosity. The record also includes structural context.
T341P (p.Thr341Pro) variant details
- p.Thr341Pro
- rs1436353084
- ClinGen CA360881344
- ClinVar RCV001530398
- gnomAD rs1436353084
- Likely pathogenic
- Cutis laxa; Generalized arterial tortuosity
- Missense
- ClinVar: Likely pathogenic (Cutis laxa; Generalized arterial tortuosity)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available