L18P (p.Leu18Pro) variant of ELN (Elastin)
L18P (p.Leu18Pro) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ELN-related disorder. The record also includes structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs2484444080
- ClinGen CA367868709
- ClinVar RCV004528628
- Uncertain significance
- ELN-related disorder
- Missense
- ClinVar: Uncertain significance (ELN-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available