L483P (p.Leu483Pro) variant of EYA1 (Protein phosphatase EYA1)
L483P (p.Leu483Pro) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Melnick-Fraser syndrome. The record also includes structural context.
L483P (p.Leu483Pro) variant details
- p.Leu483Pro
- rs2537280352
- ClinGen CA371466371
- ClinVar RCV002872633
- Likely pathogenic
- Melnick-Fraser syndrome
- Missense
- ClinVar: Likely pathogenic (Melnick-Fraser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available