E18G (p.Glu18Gly) variant of ALMS1 (Q8TCU4)
E18G (p.Glu18Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- gnomAD 2-73385918-AGG-A
- Frameshift
- CADD 23.50
- Population evidence available
- Literature evidence available