L526V (p.Leu526Val) variant of ELN (Elastin)
L526V (p.Leu526Val) in ELN (Elastin) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Supravalvar aortic stenosis. The record also includes structural context.
L526V (p.Leu526Val) variant details
- p.Leu526Val
- cosmic curated COSV52709
- 1000Genomes rs201894730
- gnomAD rs201894730
- Pathogenic
- Supravalvar aortic stenosis
- Missense
- ClinVar: Pathogenic (Supravalvar aortic stenosis)
- UniProt: Pathogenic
- Structural context available