A239G (p.Ala239Gly) variant of EYS (Protein eyes shut homolog)
A239G (p.Ala239Gly) 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.
A239G (p.Ala239Gly) variant details
- p.Ala239Gly
- rs2533027247
- ClinGen CA2580075691
- ClinVar RCV002839098
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance