S48P (p.Ser48Pro) variant of ABCA3 (Q99758)
S48P (p.Ser48Pro) in ABCA3 (Q99758) is a missense change. The record also includes structural context.
S48P (p.Ser48Pro) variant details
- p.Ser48Pro
- ExAC rs765928416
- gnomAD rs765928416
- Missense
- Structural context available