E19G (p.Glu19Gly) variant of ALMS1 (Q8TCU4)
E19G (p.Glu19Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- gnomAD 2-73385921-AGG-A
- Frameshift
- CADD 17.90
- Population evidence available
- Literature evidence available