R540G (p.Arg540Gly) variant of EYA1 (Protein phosphatase EYA1)
R540G (p.Arg540Gly) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melnick-Fraser syndrome. The record also includes structural context.
R540G (p.Arg540Gly) variant details
- p.Arg540Gly
- rs2537208381
- ClinGen CA371465982
- ClinVar RCV003595513
- Uncertain significance
- Melnick-Fraser syndrome
- Missense
- ClinVar: Uncertain significance (Melnick-Fraser syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available