N79K (p.Asn79Lys) variant of ABCA4 (P78363)
N79K (p.Asn79Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
N79K (p.Asn79Lys) variant details
- p.Asn79Lys
- rs149381884
- ClinGen CA341285484
- ClinVar RCV003044335
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available