C125R (p.Cys125Arg) variant of ABCA3 (Q99758)
C125R (p.Cys125Arg) in ABCA3 (Q99758) is a missense change. The record also includes structural context.
C125R (p.Cys125Arg) variant details
- p.Cys125Arg
- Ensembl rs2141738606
- Missense
- Structural context available