E21R (p.Glu21Arg) variant of ALMS1 (Q8TCU4)
E21R (p.Glu21Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E21R (p.Glu21Arg) variant details
- p.Glu21Arg
- rs753006733
- gnomAD 2-73385927-AG-A
- Frameshift
- CADD 21.70
- Population evidence available
- Literature evidence available