C2133R (p.Cys2133Arg) variant of ABCA4 (P78363)
C2133R (p.Cys2133Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The record also includes structural context.
C2133R (p.Cys2133Arg) variant details
- p.Cys2133Arg
- rs2523624176
- ClinGen CA341277387
- ClinVar RCV002862529
- ClinVar RCV004565630
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available