C26R (p.Cys26Arg) variant of ABCC8 (Q09428)
C26R (p.Cys26Arg) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C26R (p.Cys26Arg) variant details
- p.Cys26Arg
- TOPMed rs1462559571
- gnomAD rs1462559571
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available