Q73* (p.Gln73Ter) variant of ATP6V0A4 (Q9HBG4)
Q73* (p.Gln73Ter) in ATP6V0A4 (Q9HBG4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- TOPMed rs1370746302
- gnomAD rs1370746302
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available