E18* (p.Glu18Ter) variant of ALMS1 (Q8TCU4)
E18* (p.Glu18Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- gnomAD 2-73385920-G-T
- Stop Gained
- CADD 32.00
- Population evidence available
- Literature evidence available