M1V (p.Met1Val) variant of ELN (Elastin)
M1V (p.Met1Val) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Supravalvar aortic stenosis. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2484435508
- ClinGen CA367868620
- ClinVar RCV003518760
- Pathogenic
- Supravalvar aortic stenosis
- Missense
- ClinVar: Pathogenic (Supravalvar aortic stenosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available