N58I (p.Asn58Ile) variant of ABCA4 (P78363)
N58I (p.Asn58Ile) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe early-childhood-onset retinal dystrophy. The record also includes structural context.
N58I (p.Asn58Ile) variant details
- p.Asn58Ile
- rs2524008119
- ClinGen CA341285618
- ClinVar RCV002470565
- Uncertain significance
- Severe early-childhood-onset retinal dystrophy
- Missense
- ClinVar: Uncertain significance (Severe early-childhood-onset retinal dystrophy)
- EBI: Variant of uncertain significance (in STGD1)
- UniProt: Uncertain significance (in STGD1)
- Structural context available