E16G (p.Glu16Gly) variant of ALMS1 (Q8TCU4)
E16G (p.Glu16Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- rs1491137264
- gnomAD 2-73385912-AGG-A
- Frameshift
- CADD 29.50
- Population evidence available
- Literature evidence available