W111C (p.Trp111Cys) variant of ABCC6 (O95255)
W111C (p.Trp111Cys) in ABCC6 (O95255) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W111C (p.Trp111Cys) variant details
- p.Trp111Cys
- TOPMed rs1002088882
- gnomAD rs1002088882
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available