L190P (p.Leu190Pro) variant of EYS (Protein eyes shut homolog)
L190P (p.Leu190Pro) 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 not provided.
L190P (p.Leu190Pro) variant details
- p.Leu190Pro
- rs2533028141
- ClinGen CA364789624
- ClinVar RCV003076126
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance