S127A (p.Ser127Ala) variant of ABCA3 (Q99758)
S127A (p.Ser127Ala) in ABCA3 (Q99758) is a missense change. The record also includes structural context.
S127A (p.Ser127Ala) variant details
- p.Ser127Ala
- ExAC rs774416182
- gnomAD rs774416182
- Missense
- Structural context available