N78S (p.Asn78Ser) variant of ABCA4 (P78363)
N78S (p.Asn78Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
N78S (p.Asn78Ser) variant details
- p.Asn78Ser
- rs2524007819
- ClinGen CA341285494
- ClinVar RCV003052473
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available