S12W (p.Ser12Trp) variant of ABCC8 (Q09428)
S12W (p.Ser12Trp) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S12W (p.Ser12Trp) variant details
- p.Ser12Trp
- TOPMed rs1283621955
- gnomAD rs1283621955
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available