G59E (p.Gly59Glu) variant of ELN (Elastin)
G59E (p.Gly59Glu) in ELN (Elastin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- cosmic curated COSV10457
- ExAC rs782141308
- TOPMed rs782141308
- gnomAD rs782141308
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available