G49E (p.Gly49Glu) variant of ELN (Elastin)
G49E (p.Gly49Glu) in ELN (Elastin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99332
- TOPMed rs1790002062
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available