E11G (p.Glu11Gly) variant of ALMS1 (Q8TCU4)
E11G (p.Glu11Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- gnomAD 2-73385899-GA-G
- Frameshift
- CADD 28.70
- Population evidence available
- Literature evidence available