Y97F (p.Tyr97Phe) variant of ADA (Adenosine deaminase)
Y97F (p.Tyr97Phe) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ADASCID. The record also includes structural context.
Y97F (p.Tyr97Phe) variant details
- p.Tyr97Phe
- ExAC rs267606634
- TOPMed rs267606634
- gnomAD rs267606634
- Pathogenic
- in ADASCID
- Missense
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Structural context available