E22R (p.Glu22Arg) variant of ALMS1 (Q8TCU4)
E22R (p.Glu22Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E22R (p.Glu22Arg) variant details
- p.Glu22Arg
- gnomAD 2-73385930-AG-A
- Frameshift
- CADD 22.70
- Population evidence available
- Literature evidence available