Q21* (p.Gln21Ter) variant of ABCA4 (P78363)
Q21* (p.Gln21Ter) in ABCA4 (P78363) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- rs770272033
- ClinGen CA958970
- ClinVar RCV001233348
- ClinVar RCV001353021
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available