E23* (p.Glu23Ter) variant of ALMS1 (Q8TCU4)
E23* (p.Glu23Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- gnomAD 2-73385935-G-T
- Stop Gained
- CADD 33.00
- Population evidence available
- Literature evidence available