Y119S (p.Tyr119Ser) variant of ABCA3 (Q99758)
Y119S (p.Tyr119Ser) in ABCA3 (Q99758) is a missense change. The record also includes population frequency data and structural context.
Y119S (p.Tyr119Ser) variant details
- p.Tyr119Ser
- 1000Genomes rs538323458
- ExAC rs538323458
- TOPMed rs538323458
- gnomAD rs538323458
- Missense
- Population evidence available
- Structural context available