E28D (p.Glu28Asp) variant of ABCA3 (Q99758)
E28D (p.Glu28Asp) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- TOPMed rs1596866633
- gnomAD rs1596866633
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available