E25R (p.Glu25Arg) variant of ALMS1 (Q8TCU4)
E25R (p.Glu25Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E25R (p.Glu25Arg) variant details
- p.Glu25Arg
- rs1491515884
- gnomAD 2-73385939-AGG-A
- Frameshift
- CADD 20.50
- Population evidence available
- Literature evidence available