E17* (p.Glu17Ter) variant of ALMS1 (Q8TCU4)
E17* (p.Glu17Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- TOPMed rs1407290993
- gnomAD rs1407290993
- Stop Gained
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)