S95L (p.Ser95Leu) variant of ABCA4 (P78363)
S95L (p.Ser95Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The record also includes structural context.
S95L (p.Ser95Leu) variant details
- p.Ser95Leu
- rs2524007564
- ClinGen CA341285373
- ClinVar RCV003889532
- Uncertain significance
- Retinal dystrophy
- Missense
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available