E24G (p.Glu24Gly) variant of ALMS1 (Q8TCU4)
E24G (p.Glu24Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E24G (p.Glu24Gly) variant details
- p.Glu24Gly
- rs1491508985
- gnomAD 2-73385936-AGG-A
- Frameshift
- CADD 16.60
- Population evidence available
- Literature evidence available