E20G (p.Glu20Gly) variant of ALMS1 (Q8TCU4)
E20G (p.Glu20Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- rs767882166
- gnomAD 2-73385924-AGG-A
- Frameshift
- CADD 21.60
- Population evidence available
- Literature evidence available