E13* (p.Glu13Ter) variant of ALMS1 (Q8TCU4)
E13* (p.Glu13Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- gnomAD 2-73385905-G-T
- Stop Gained
- CADD 36.00
- Population evidence available
- Literature evidence available