L9F (p.Leu9Phe) variant of ABCA4 (P78363)
L9F (p.Leu9Phe) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- rs2524048090
- ClinGen CA341288849
- ClinVar RCV003050277
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available