M3R (p.Met3Arg) variant of EYA1 (Protein phosphatase EYA1)
M3R (p.Met3Arg) 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.
M3R (p.Met3Arg) variant details
- p.Met3Arg
- rs2537446532
- ClinGen CA371529763
- ClinVar RCV003758624
- Uncertain significance
- Melnick-Fraser syndrome
- Missense
- ClinVar: Uncertain significance (Melnick-Fraser syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available