R121M (p.Arg121Met) variant of ABCA3 (Q99758)
R121M (p.Arg121Met) in ABCA3 (Q99758) is a missense change. The record also includes variant effect predictions and structural context.
R121M (p.Arg121Met) variant details
- p.Arg121Met
- gnomAD rs1207006823
- Missense
- MetaLR 0.67
- MetaSVM -0.25
- SIFT 0.06
- Structural context available