D123H (p.Asp123His) variant of ABCA3 (Q99758)
D123H (p.Asp123His) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
D123H (p.Asp123His) variant details
- p.Asp123His
- ESP rs145087575
- ExAC rs145087575
- TOPMed rs145087575
- gnomAD rs145087575
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available