E26* (p.Glu26Ter) variant of ALMS1 (Q8TCU4)
E26* (p.Glu26Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- gnomAD 2-73385943-A-AT
- Stop Gained
- CADD 15.30
- Population evidence available
- Literature evidence available