E24R (p.Glu24Arg) variant of ALMS1 (Q8TCU4)
E24R (p.Glu24Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E24R (p.Glu24Arg) variant details
- p.Glu24Arg
- gnomAD 2-73385936-AGGAGG
- Frameshift
- CADD 19.90
- Population evidence available
- Literature evidence available