C230F (p.Cys230Phe) variant of ABCA4 (P78363)
C230F (p.Cys230Phe) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Stargardt disease. The record also includes structural context.
C230F (p.Cys230Phe) variant details
- p.Cys230Phe
- rs2523965931
- ClinGen CA341289346
- ClinVar RCV002468914
- Likely pathogenic
- Stargardt disease
- Missense
- ClinVar: Likely pathogenic (Stargardt disease)
- EBI: Likely pathogenic (in STGD1)
- UniProt: Likely pathogenic (in STGD1)
- Structural context available