E16R (p.Glu16Arg) variant of ALMS1 (Q8TCU4)
E16R (p.Glu16Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E16R (p.Glu16Arg) variant details
- p.Glu16Arg
- rs1558624515
- gnomAD 2-73385912-AG-A
- Frameshift
- CADD 29.00
- Population evidence available
- Literature evidence available