A53D (p.Ala53Asp) variant of EYA1 (Protein phosphatase EYA1)
A53D (p.Ala53Asp) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A53D (p.Ala53Asp) variant details
- p.Ala53Asp
- ExAC rs776352141
- TOPMed rs776352141
- gnomAD rs776352141
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available