E27R (p.Glu27Arg) variant of ALMS1 (Q8TCU4)
E27R (p.Glu27Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E27R (p.Glu27Arg) variant details
- p.Glu27Arg
- rs1553396120
- gnomAD 2-73385942-A-AGG
- Frameshift
- CADD 16.10
- Population evidence available
- Literature evidence available