M1L (p.Met1Leu) variant of EYS (Protein eyes shut homolog)
M1L (p.Met1Leu) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2533031081
- ClinGen CA364790870
- ClinVar RCV003891100
- Uncertain significance
- Retinal dystrophy
- Missense
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance