E21G (p.Glu21Gly) variant of ALMS1 (Q8TCU4)
E21G (p.Glu21Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- gnomAD 2-73385927-AGG-A
- Frameshift
- CADD 23.10
- Population evidence available
- Literature evidence available