E79Q (p.Glu79Gln) variant of ABCA3 (Q99758)
E79Q (p.Glu79Gln) in ABCA3 (Q99758) is a missense change. The record also includes variant effect predictions and structural context.
E79Q (p.Glu79Gln) variant details
- p.Glu79Gln
- TOPMed rs1185200028
- gnomAD rs1185200028
- Missense
- MetaLR 0.81
- MetaSVM 0.84
- SIFT 0.02
- Structural context available